Home  About us  Contact
 

Progressive Myoclonic Epilepsy (progressive + myoclonic_epilepsy)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Classification of the Myoclonic Epilepsies

EPILEPSIA, Issue 2003
Ilo E. Leppik
Summary: The myoclonic epilepsies are a collection of syndromes in which myoclonic seizures are a prominent feature. Proper classification of a patient's syndrome is critical for appropriate treatment and prognosis. However, classification of such syndromes is often difficult because the terminology used to describe seizures can be confusing and inconsistent. Myoclonic epilepsy syndromes can be epileptic or nonepileptic and can also be divided into inherited and acquired forms. Progressive myoclonic epilepsy (PME) syndromes are the most severe of the myoclonic epilepsies. Diagnosis of PME syndromes on clinical grounds can be difficult, but advances in genetic testing have made diagnoses more accurate. Some other benign myoclonic epilepsy syndromes also have identified gene markers, which can aid in diagnosis. To accurately classify a patient's epilepsy syndrome, clinicians should use all available clinical laboratory tools appropriately. Improved accuracy of diagnosis for patients with myoclonic epilepsies should lead to more dependable prognoses and more effective treatment. [source]

Coexistence of Unverricht-Lundborg disease and congenital deafness: Molecular resolution of a complex comorbidity

EPILEPSIA, Issue 6 2009
Miljana Kecmanovi
Summary Purpose:, We report on genetic analysis of a complex condition in a Serbian family of four siblings, wherein two had progressive myoclonic epilepsy (PME) and congenital deafness (CD), one had isolated congenital deafness (ICD), and one was healthy. Methods and Results:, Molecular diagnosis performed by Southern blotting confirmed Unverricht-Lundborg disease in the available sibling with PME/CD. In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well. Discussion:, To the best of our knowledge this is the first genetic confirmation of the coexistence of these two mutations. [source]

MR Spectroscopy Findings in Lafora Disease

JOURNAL OF NEUROIMAGING, Issue 4 2009
Ebru Altindag MD
ABSTRACT PURPOSE Our aim was to investigate the [1H] MR spectroscopy (MRS) findings of Lafora Disease (LD), which is a disabling form of progressive myoclonic epilepsy. METHODS Twelve patients diagnosed with LD and 12 control subjects underwent MRS studies with single-voxels of 8 cc obtained in the frontal lobe, pons, and cerebellum. The metabolites and NAA/Cr, NAA/Cho, Cho/Cr, mI/Cr ratios were calculated. Subgroup analysis was also done between 5 patients with EPM2B and 6 patients with EPM2A mutations. Two investigators scored neurological symptom severity. RESULTS We found a statistically significant difference of NAA/Cho ratio in LD patients compared with normal controls in cerebellum (P= 0.04). In addition, both myoclonus and ataxia scores showed significant correlation with NAA/Cho ratios in the pons (P= 0.03, P= 0.04) and in the cerebellum (P= 0.04, P= 0.01), respectively. CONCLUSION We conclude that the cerebellum is the mostly affected structure in LD and there are significant correlations of MRS findings with some clinical parameters. The differences in the group may be related to different genetic mutations besides disease duration and other clinical variables. MRS studies could provide insights about the severity of the involvement of LD. [source]

Oxidative stress in developmental brain disorders

NEUROPATHOLOGY, Issue 1 2009
Masaharu Hayashi
Oxidative stress is one of the predisposing factors in adult neurological disorders. We have examined the involvement of oxidative stress in child-onset neurodegenerative disorders, and here we review the findings from our analysis. In cases of Cockayne syndrome, the oxidative products of lipids and proteins were increased in the globus pallidus; however, oxidative nucleotide damage that coincided with reduced copper/zinc superoxide dismutase (Cu/ZnSOD) expression was observed in cases of xeroderma pigmentosum, and these patients also presented increased oxidative stress markers in urine samples. In spinal muscular atrophy, lipid peroxidation in conjunction with oxidative DNA damage was observed in motor neurons. Cases of subacute sclerosing panencephalitis presented oxidative nucleoside damage in cerebral cortical neurons at early disease stages, which were subsequently replaced by lipid peroxidation in glial cells of cerebral white matter. In relation to progressive myoclonic epilepsy, oxidative damage to DNA, proteins, and lipids appeared to coincide with cerebral and cerebellar cortical lesions of neuronal ceroid-lipofuscinosis. Patients with Lafora disease also presented an increase in oxidative stress markers for DNA and/or lipids in the brain and urine. These findings imply involvement of oxidative stress in developmental brain disorders; antioxidant agents could prove to be useful for treating patients with those disorders. [source]

Epilepsy evaluation by electroencephalography and magnetoencephalography in Lafora-body disease: a case report

ACTA PAEDIATRICA, Issue 10 2003
A Verrotti
Lafora-body disease (LBD) is a rare neurometabolic disorder of autosomal recessive inheritance associated with progressive myoclonic epilepsy. We report here the first description of ictal and interictal recording by electroencephalography (EEG) and magnetoencephalography (MEG) of a 15-y-old girl suffering from LBD. Conclusions: Complementary use of MEG and EEG might be of future help to the clinician in better defining the pathophysiology of complex seizures, and also in patients with progressive neurological disorders, despite the poor prognosis of syndromes such as LBD. [source]