|
| ||
|
|
||
Cerebral Atrophy (cerebral + atrophy)
Selected AbstractsThe functional neuroanatomy of geriatric depressionINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 8 2009Gwenn S. Smith Abstract Objective Positron Emission Tomography (PET) studies of cerebral glucose metabolism have demonstrated sensitivity in evaluating the functional neuroanatomy of treatment response variability in depression, as well as in the early detection of functional changes associated with incipient cognitive decline. The evaluation of cerebral glucose metabolism in late life depression may have implications for understanding treatment response variability, as well as evaluating the neurobiological basis of depression in late life as a risk factor for dementia. Methods Sixteen patients with geriatric depression and 13 comparison subjects underwent resting PET studies of cerebral glucose metabolism, as well as magnetic resonance (MR) imaging scans to evaluate brain structure. Results Cerebral glucose metabolism was elevated in geriatric depressed patients relative to comparison subjects in anterior (right and left superior frontal gyrus) and posterior (precuneus, inferior parietal lobule) cortical regions. Cerebral atrophy (increased cerebrospinal fluid [CSF] and decreased grey and white matter volumes) were observed in some of these regions, as well. Regional cerebral metabolism was positively correlated with severity of depression and anxiety symptoms. Conclusions In contrast to decreased metabolism observed in normal aging and neurodegenerative conditions such as Alzheimer's disease, cortical glucose metabolism was increased in geriatric depressed patients relative to demographically matched controls, particularly in brain regions in which cerebral atrophy was observed, which may represent a compensatory response. Copyright © 2009 John Wiley & Sons, Ltd. [source] Cerebral Cortical Gyrification: A Preliminary Investigation in Temporal Lobe EpilepsyEPILEPSIA, Issue 2 2007Lisa Ronan Summary:,Purpose: To introduce a measure of global cortical folding in epilepsy by using stereology. Subtle developmental abnormalities associated with temporal lobe epilepsy may encompass brain morphologic changes such as an aberrant degree of cortical folding. Methods: Stereologic methods of volume and surface-area estimation were applied to in vivo MR brain-image data of a cohort of 20 temporal lobe epilepsy (TLE) patients (10 men, 10 women), and 20 neurologically normal controls (10 men, 10 women). Indices of cerebral gyrification and cerebral atrophy were generated. The impact of side of seizure onset, age at onset, history of febrile seizures, presence or absence of lesions, and presence or absence of secondarily generalized seizures on cerebral gyrification was assessed. Results: Although no significant group mean difference was found in the degree of cerebral gyrification between patients and controls, five of 10 of male patients had an abnormal gyrification when compared with male controls. One female patient had a significant change in gyrification compared with female controls. In general, patients with TLE demonstrated a significant degree of global cerebral atrophy compared with controls. Clinical factors were not demonstrated to affect significantly any of the quantitative parameters. Conclusions: The results of this study suggest that an aberrant degree of global cerebral gyrification may occur in certain clinical groups of TLE patients. These findings have implications for general theories of developmental susceptibility in TLE. [source] Cerebral Damage in Epilepsy: A Population-based Longitudinal Quantitative MRI StudyEPILEPSIA, Issue 9 2005Rebecca S. N. Liu Summary:,Purpose: Whether cerebral damage results from epileptic seizures remains a contentious issue. We report on the first longitudinal community-based quantitative magnetic resonance imaging (MRI) study to investigate the effect of seizures on the hippocampus, cerebellum, and neocortex. Methods: One hundred seventy-nine patients with epilepsy (66 temporal lobe epilepsy, 51 extratemporal partial epilepsy, and 62 generalized epilepsy) and 90 control subjects underwent two MRI brain scans 3.5 years apart. Automated and manual measurement techniques identified changes in global and regional brain volumes and hippocampal T2 relaxation times. Results: Baseline hippocampal volumes were significantly reduced in patients with temporal lobe epilepsy and could be attributed to an antecedent neurologic insult. Rates of hippocampal, cerebral, and cerebellar atrophy were not syndrome specific and were similar in control and patient groups. Global and regional brain atrophy was determined primarily by age. A prior neurologic insult was associated with reduced hippocampal and cerebellar volumes and an increased rate of cerebellar atrophy. Significant atrophy of the hippocampus, neocortex, or cerebellum occurred in 17% of patients compared with 6.7% of control subjects. Patients with and without significant volume reduction were comparable in terms of seizure frequency, antiepileptic drug (AED) use, and epilepsy duration, with no identifiable risk factors for the development of atrophy. Conclusions: Overt structural cerebral damage is not an inevitable consequence of epileptic seizures. In general, brain volume reduction in epilepsy is the cumulative effect of an initial precipitating injury and age-related cerebral atrophy. Significant atrophy developed in individual patients, particularly those with temporal lobe and generalized epilepsy. Longer periods of observation may detect more subtle effects of seizures. [source] The functional neuroanatomy of geriatric depressionINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 8 2009Gwenn S. Smith Abstract Objective Positron Emission Tomography (PET) studies of cerebral glucose metabolism have demonstrated sensitivity in evaluating the functional neuroanatomy of treatment response variability in depression, as well as in the early detection of functional changes associated with incipient cognitive decline. The evaluation of cerebral glucose metabolism in late life depression may have implications for understanding treatment response variability, as well as evaluating the neurobiological basis of depression in late life as a risk factor for dementia. Methods Sixteen patients with geriatric depression and 13 comparison subjects underwent resting PET studies of cerebral glucose metabolism, as well as magnetic resonance (MR) imaging scans to evaluate brain structure. Results Cerebral glucose metabolism was elevated in geriatric depressed patients relative to comparison subjects in anterior (right and left superior frontal gyrus) and posterior (precuneus, inferior parietal lobule) cortical regions. Cerebral atrophy (increased cerebrospinal fluid [CSF] and decreased grey and white matter volumes) were observed in some of these regions, as well. Regional cerebral metabolism was positively correlated with severity of depression and anxiety symptoms. Conclusions In contrast to decreased metabolism observed in normal aging and neurodegenerative conditions such as Alzheimer's disease, cortical glucose metabolism was increased in geriatric depressed patients relative to demographically matched controls, particularly in brain regions in which cerebral atrophy was observed, which may represent a compensatory response. Copyright © 2009 John Wiley & Sons, Ltd. [source] Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boyINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 3 2006M. ATAR Summary., This report describes the case of a young Chinese boy with Kabuki syndrome (KS). KS is a congenital condition characterized by multiple anomalies, especially of the face, and is usually associated with mild to moderate mental retardation. The patient presented with the characteristic facial features of KS and some skeletal and neurological anomalies including a butterfly vertebrae with scoliosis, cerebral atrophy, and irregular dentition. Dental examination revealed screwdriver-shaped incisors and a high arched maxilla, features typical of patients with KS, as well as very poor oral hygiene and early childhood caries. This report includes discussion of the aetiology of KS as well as discussion of the long-term prognosis for this particular patient, and patients with KS in general, with consideration of associated dental and medical issues. [source] Radiation-induced brain disorders in patients with pituitary tumoursJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2004A Bhansali Summary Radiation-induced brain disorders (RIBD) are uncommon and they are grave sequelae of conventional radiotherapy. In the present report, we describe the clinical spectrum of RIBD in 11 patients who received post-surgery conventional megavoltage irradiation for residual pituitary tumours. Of these 11 patients (nine men, two women), seven had been treated for non-functioning pituitary tumours and four for somatotropinomas. At the time of irradiation the age of these patients ranged from 30 to 59 years (mean, 39.4 ± 8.3; median, 36) with a follow-up period of 6,96 months (mean, 18.3 ± 26.4; median, 11). The dose of radiation ranged from 45 to 90 Gy (mean, 51.3 ± 13.4; median, 45), which was given in 15,30 fractions (mean, 18.6 ± 5.0; median, 15) with 2.8 ± 0.3 Gy (median, 3) per fraction. The biological effective dose calculated for late complications in these patients ranged from 78.7 to 180 Gy (mean, 99.1 ± 27.5; median, 90). The lag time between tumour irradiation and the onset of symptoms ranged from 6 to 168 months (mean, 46.3 ± 57.0; median, 57). The clinical spectrum of RIBD included new-onset visual abnormalities in five, cerebral radionecrosis in the form of altered sensorium in four, generalized seizures in four, cognitive dysfunction in five, dementia in three and motor deficits in two patients. Magnetic resonance imaging (MRI)/CT of the brain was suggestive of radionecrosis in eight, cerebral oedema in three, cerebral atrophy in two and second neoplasia in one patient. Associated hormone deficiencies at presentation were hypogonadism in eight, hypoadrenalism in six, hypothyroidism in four and diabetes insipidus in one patient. Autopsy in two patients showed primitive neuroectodermal tumour (PNET) and brainstem radionecrosis in one, and a cystic lesion in the left frontal lobe following radionecrosis in the other. We conclude that RIBD have distinctive but varying clinical and radiological presentations. Diabetes insipidus and PNET as a second neoplastic disorder in adults following pituitary irradiation have not been reported previously. [source] Reversible Cytotoxic Edema in a Cirrhotic Patient Following TIPSJOURNAL OF NEUROIMAGING, Issue 4 2009James R. Babington MD ABSTRACT The authors report the magnetic resonance imaging (MRI) findings in a 52-year-old man with cirrhosis from chronic hepatitis C who developed episodic acute hepatic encephalopathy Type C following placement of transjugular intrahepatic portosystemic shunt (TIPS). Brain MRI revealed hyperintense T2 signal and restricted diffusion distributed through the cerebral cortex. The patient's mentation improved with treatment of his hyperammonemia. Brain MRI performed 5 months later revealed diffuse cerebral atrophy and new areas of hyperintense T2 signal in the cerebral white matter. The cortical signal abnormalities and low apparent diffusion coefficient values on the initial MRI resolved with exception of a mild amount of hyperintense FLAIR signal in the cingulate cortex. Acute hepatic encephalopathy following portosystemic shunting,either from placement of TIPS or from development of spontaneous shunts,is a widely recognized complication of portal hypertension and cirrhosis. We report MRI findings of reversible cytotoxic edema in a patient with acute hepatic encephalopathy following placement of TIPS. [source] Neuroimaging Determinants of Cognitive Performances in Stroke Associated With Small Vessel DiseaseJOURNAL OF NEUROIMAGING, Issue 2 2005V. Mok MD ABSTRACT Background and Purpose. Controversies still exist as to the neuroimaging determinants of cognitive impairment in cerebral small vessel disease (SVD). The authors studied the neuroimaging correlates of cognitive performances among patients with stroke associated with SVD. Methods. The authors per formed cerebral computed tomography, magnetic resonance imaging, and diffusion-weighted imaging among 74 consecu tive patients admitted to the acute stroke unit because of stroke associated with SVD. They examined the association between cognitive performances and the following neuroimaging features: volume of white matter changes (WMC), multiplicity of lacunae, location of lacunae, total cerebral atrophy, and frontal and medial temporal lobe atrophy. Results. Apart from age and education, univariate linear regression analyses revealed that WMC volume, presence of thalamic lacunae, cerebral atrophy, and left frontal lobe atrophy predicted performance on the Mini-Mental State Examination while WMC volume, presence of thalamic infarcts, cerebral atrophy, and frontal lobe atrophy of both sides predicted performance on the Mattis Dementia Rat ing Scale-Initiation/Preservation subscale. In the multivariate analyses, education (R2= 0.22, P < .001), left frontal lobe atrophy (R2= 0.10, P= .004), and presence of thalamic lacunae (R2= 0.04, P= .049) were found to predict performance on the Mini-Mental State Examination while age (R2= 0.23, P < .001) and presence of thalamic lacunae (R2= 0.08, P= .011) were found to predict performance on the Mattis Dementia Rating Scale-Initiation/Preservation. Conclusions. Among patients with stroke associated with SVD, thalamic lacunae and frontal lobe atrophy are key determinants of cognitive performances. [source] Amygdalar and hippocampal MRI volumetric reductions in Parkinson's disease with dementiaMOVEMENT DISORDERS, Issue 5 2005Carme Junqué PhD Abstract Parkinson's disease (PD) involves neuropathological changes in the limbic system that lead to neuronal loss and volumetric reductions of several nuclei. We investigated possible volumetric reductions of the amygdala and hippocampus associated to PD. We carried out magnetic resonance imaging (MRI) volumetric studies in 16 patients with PD and dementia (PDD), 16 patients with PD without dementia (PD), and 16 healthy subjects. The general analysis of variance (ANOVA) showed a significant group effect (for the amygdala, P = 0.01; for the hippocampus, P = 0.005). A post-hoc test demonstrated that the differences were due to PDD and control group comparisons for the amygdala (P = 0.008) and for the hippocampus (P = 0.004). In nondemented PD subjects, we observed an 11% reduction in the amygdala and a 10% reduction in the hippocampus compared with that in controls. In summary, demented PD patients have clear amygdalar and hippocampal atrophy that remains statistically significant after controlling for global cerebral atrophy. Nondemented PD patients also showed a degree of volumetric reduction in these structures although the differences were not statistically significant. © 2005 Movement Disorder Society [source] Quantitative analysis of neurofibrillary pathology in a general population to reappraise neuropathological criteria for senile dementia of the neurofibrillary tangle type (tangle-only dementia): The Hisayama studyNEUROPATHOLOGY, Issue 6 2006Kazuhito Noda Senile dementia of the neurofibrillary tangle type (SD-NFT) is characterized by numerous neurofibrillary tangles (NFT) in the hippocampal region and the absence or minimal presence of senile plaques throughout the brain. We analyzed 207 demented subjects and 68 non-demented subjects autopsied in the Hisayama study to investigate the clinicopathological aspects of SD-NFT in the general Japanese population. The prevalence of SD-NFT in the consecutive autopsy cases was 8/207 (3.9%), comprising three men and five women. The average age at onset and death was 83.8 ± 6.8 (mean ± SD; standard deviation) and 88.1 ± 7.6 years, respectively. A mild memory disturbance preceded a decrease in the ability to undertake the activities of daily living and the diagnosis of dementia. Focal cerebral symptoms, such as aphasia and paralysis, did not appear during the disease course of any subject. Gross examination of the brains showed moderate to severe diffuse cerebral atrophy with brain weight loss (mean ± SD; standard deviation: 1118.1 ± 124.0 g). Histologically, there were abundant NFT and neuropil threads predominantly in or limited to the limbic cortex. The density of NFT in the CA1/subiculum in SD-NFT was much higher than the densities in the other hippocampal regions. The average density of NFT in CA1 in SD-NFT subjects was 115.4 per 100× field (range 23,247), that in Alzheimer disease (AD) subjects was 80.1 (range 1,227), and that in non-demented elderly subjects was 37.2 (range 0,203). Although many previous papers have reported that the densities of NFT in the limbic system in SD-NFT were significantly higher than those in AD, there was considerable overlap of NFT densities in CA1 among the non-demented elderly, AD subjects and SD-NFT subjects. [source] Profound loss of GABAergic interneurons in the PPT1 knockout mouse model of infantile neuronal ceroid lipofuscinosisNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 2 2002J. D. Cooper Introduction:, The neuronal ceroid lipofuscinoses (NCL) are progressive neurodegenerative disorders with onset from infancy to adulthood that are manifested by blindness, seizures and dementia. In infantile NCL (INCL), a mutation in the palmitoyl protein thioesterase (PPT1) gene results in loss of PPT1 activity and lysosomal accumulation of autofluorescent proteolipid in the brain and other tissues. We have generated a PPT1 knockout mouse model of INCL (PPT1,/,) and characterized pathological changes in the CNS of these mice, which die by 8 months of age. Results:, 7-month-old PPT1,/, exhibited NCL-like pathology with prominent accumulation of autofluorescent lipopigment throughout the CNS, together with pronounced cerebral atrophy. Staining for phenotypic markers normally present in subpopulations of interneurons in the cortex and hippocampus revealed progressive loss of staining in the cortex and hippocampus, with persisting interneurons exhibiting pronounced hypertrophy and abnormal dendritic morphology. Conclusions:, Taken together with our findings in the other mouse models of NCL and preliminary data from NCL patient derived tissue, these results provide further substantive evidence for the involvement of interneurons in the NCLs. Acknowledgements:, Supported by The Batten's Disease Support and Research Association, The Natalie Fund, The Remy Fund; Batten's Disease Family Association. [source] Effects of music and art education in early life and oral functions on the QOL of the Takarazuka Revue Company OG compared with general elderly femalesPSYCHOGERIATRICS, Issue 1 2010Takiko MASUTANI Abstract Background:, Today, Japan is becoming a super-aged society, with senior citizens already constituting over 21% of the population. In this situation, the question of how elderly people can extend their lives and enjoy independent lifestyles is becoming more important. The present study aims to clarify the relationship between the Quality of Life (QOL) of elderly females and their current oral functions and experiences of music and art education in early life. Methods:, We carried out a survey study focusing on elderly females (Takarazuka Revue Company OG group and general female group) by carrying out a questionnaire survey and comparing cognitive function, oral examinations, cerebral atrophy in magnetic resonance imaging, and other characteristics. Results:, It was shown that the Takarazuka Revue Company OG group had greater hippocampal volumes and significantly higher cognitive functions than the general female group. In addition, in the general female group, there was a significant correlation between a decrease in the number of remaining teeth and a decrease in activities in daily living, but in the Takarazuka Revue Company OG group, no such correlation was observed. Conclusions:, The results showed that those who have received art education as part of their careers over an extensive period since early life have higher levels of cognitive function, QOL, physical activity, social activity and life satisfaction compared with the general female group; showing that they sense a purpose in life and live with a positive attitude. In contrast, in the general female group, those who have continued to enjoy hobbies have higher levels of cognitive function, QOL, physical activity, social activity and life satisfaction than those who have not, thus showing that they live with a positive attitude. [source] Long-term neurological and functional outcome in Nipah virus infectionANNALS OF NEUROLOGY, Issue 3 2007James J. Sejvar MD Objective Nipah virus (NiV) is an emerging zoonosis. Central nervous system disease frequently results in high case-fatality. Long-term neurological assessments of survivors are limited. We assessed long-term neurologic and functional outcomes of 22 patients surviving NiV illness in Bangladesh. Methods During August 2005 and May 2006, we administered a questionnaire on persistent symptoms and functional difficulties to 22 previously identified NiV infection survivors. We performed neurologic evaluations and brain magnetic resonance imaging (MRI). Results Twelve (55%) subjects were male; median age was 14.5 years (range 6,50). Seventeen (77%) survived encephalitis, and 5 survived febrile illness. All but 1 subject had disabling fatigue, with a median duration of 5 months (range, 8 days,8 months). Seven encephalitis patients (32% overall), but none with febrile illness had persistent neurologic dysfunction, including static encephalopathy (n = 4), ocular motor palsies (2), cervical dystonia (2), focal weakness (2), and facial paralysis (1). Four cases had delayed-onset neurologic abnormalities months after acute illness. Behavioral abnormalities were reported by caregivers of over 50% of subjects under age 16. MRI abnormalities were present in 15, and included multifocal hyperintensities, cerebral atrophy, and confluent cortical and subcortical signal changes. Interpretation Although delayed progression to neurologic illness following Nipah fever was not observed, persistent fatigue and functional impairment was frequent. Neurologic sequelae were frequent following Nipah encephalitis. Neurologic dysfunction may persist for years after acute infection, and new neurologic dysfunction may develop after acute illness. Survivors of NiV infection may experience substantial long-term neurologic and functional morbidity. Ann Neurol 2007 [source] Association of global brain damage and clinical functioning in neuropsychiatric systemic lupus erythematosusARTHRITIS & RHEUMATISM, Issue 10 2002G. P. Th. Objective To investigate the relationship between quantitative estimates of global brain damage based on magnetization transfer imaging (MTI) and cerebral functioning, as measured by neurologic, psychiatric, and cognitive assessments, as well as disease duration in patients with a history of neuropsychiatric systemic lupus erythematosus (NPSLE). Methods In a clinically heterogeneous group of 24 female patients (age range 19,65 years, mean age 35 years) with a history of NPSLE, the correlation values of several volumetric MTI measures and an estimate of cerebral atrophy, neurologic functioning (Kurtzke's Expanded Disability Status Scale [EDSS]), psychiatric functioning (the Hospital Anxiety and Depression Scale [HADS]), and cognitive functioning (cognitive impairment score [CIS] derived from the revised Wechsler Adult Intelligence Scale), as well as several measures of disease duration were assessed using Pearson's correlation coefficient. Results Quantitative volumetric estimates of global brain damage based on MTI and a measure of global brain atrophy correlated significantly with the EDSS, HADS, and CIS scores. No significant correlation was found between the quantitative estimates of global brain damage and the measures of disease duration. Conclusion The results of this study demonstrate that volumetric MTI parameters and cerebral atrophy reflect functionally relevant brain damage in patients with NPSLE. Furthermore, the absence of a linear relationship between disease duration and results of volumetric MTI measures and atrophy suggests a complicated pattern of accumulating brain damage in patients with NPSLE. [source] Insights into the Pathogenesis of Hydrocephalus from Transgenic and Experimental Animal ModelsBRAIN PATHOLOGY, Issue 3 2004Leslie Crews Hydrocephalus is a progressive brain disorder characterized by abnormalities in the flow of cerebrospinal fluid (CSF) and ventricular dilatation that leads to cerebral atrophy, and if left untreated, can be fatal. Genetic mutations, congenital malformations, infectious diseases, intracerebral hemorrhages and tumors are common conditions resulting in hydrocephalus. Although the causes of obstructive hydrocephalus are better understood, the mechanisms resulting in chronic, progressive communicating congenital and acquired hydrocephalus are less well understood. In this regard, recent studies in transgenic (tg) mice suggest that increased expression of cytokines such as TGF-,1 might play an important role by disrupting the vascular extracellular matrix (ECM) remodeling, promoting hemorrhages, and altering the reabsorption of CSF. In this context, the main objective of this manuscript is to provide an overview on the cellular and molecular mechanisms of hydrocephalus based on studies derived from tg and experimental animal models. [source] Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitisACTA NEUROLOGICA SCANDINAVICA, Issue 4 2010H. Sakuma Sakuma H, Awaya Y, Shiomi M, Yamanouchi H, Takahashi Y, Saito Y, Sugai K, Sasaki M. Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitis. Acta Neurol Scand: 2010: 121: 251,256. © 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objective,,, We conducted a nationwide multicenter study in Japan to elucidate the clinical and laboratory characteristics of acute encephalitis with refractory, repetitive partial seizures (AERRPS). Materials and methods,,, Clinical and laboratory features, treatment, and outcome were assessed using a structured questionnaire. Results,,, Twenty-nine children were enrolled in the study. Refractory and repetitive partial seizures accompanied by fever were the cardinal clinical features. Partial seizures consisted principally of eye deviation or facial twitching, being periodically repeated during the acute phase. These seizures were refractory to conventional anticonvulsants and were only suppressed by high-dose intravenous barbiturate administration. Rhythmic activities on electroencephalography and non-specific cerebral atrophy on neuroimaging were common. Serum or cerebrospinal antibodies against GluR,2 were positive in six patients. General prognosis was unfavorable due to intractable epilepsy and cognitive deficits. Conclusion,,, Based on the peculiar and homogenous features, AERRPS can be regarded as a distinct clinical entity. [source] Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseasesACTA PAEDIATRICA, Issue 11 2009Jeong Tae Kim Abstract Aim:, Mitochondrial disease is a heterogeneous disorder entity induced by defects in mitochondrial respiratory chain complex (MRC). A significant portion of patients with MRC defect will not conform to a specific, known syndrome. We have analysed the clinical features of 108 Korean paediatric patients with non-specific and non-categorized mitochondrial disease. Methods:, We retrospectively reviewed the clinical and laboratory features of 108 paediatrics patients with non-specific and non-categorized mitochondrial diseases who showed defects in MRC activity, confirmed by spectrophotometric biochemical enzyme assay of their muscles. Results:, Neuromuscular involvement was noted in all patients, with developmental delay and seizure accounting for 92.6% and 77.8% of total patients respectively. Various extraneurological symptoms were observed. Most patients exhibited MRC I defect, accounting for 100 (92.6%) patients. The most common brain magnetic resonance imaging (MRI) finding was diffuse cerebral atrophy. However, in 23.1% of patients, no notable changes were visible on MRI. Conclusions:, Mitochondrial respiratory chain complex I defect was the most common finding in this study. Though neuromuscular symptoms predominated, with presence of numerous extraneurological findings, we could not find any novel symptoms that might be unique to this category of mitochondrial disease. But, comparatively, more patients presented with unremarkable birth histories and normal brain MRI findings. [source] | ||||||||||||||||||||||