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Machado-Joseph Disease (machado-joseph + disease)
Selected AbstractsNon-movement disorder heralds symptoms of Machado-Joseph disease years before ataxiaMOVEMENT DISORDERS, Issue 6 2005Anelyssa D'Abreu MD Abstract We describe three patients with the Machado-Joseph disease (MJD) genetic abnormality who had non-movement disorder neurological symptoms or signs that preceded the gait ataxia by several years. This implies that some clinical manifestations other than ataxia may be considered part of the herald symptoms of MJD, especially in the setting of a positive family history. © 2005 Movement Disorder Society [source] Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3)MOVEMENT DISORDERS, Issue 6 2002Joseph H. Friedman MD Abstract Rapid eye movement behavior disorder (RBD) is a recently recognized sleep disorder in which patients are occasionally not paralyzed during the dream portions of sleep. When not idiopathic, this state has been associated primarily with parkinsonian conditions but also with a small number of medications and other neurodegenerative disorders. Dopamine deficiency may play a role in some patients. This report describes the occurrence of a syndrome that appears to be RBD in 6 of 7 patients followed with Spinocerebellar ataxia type 3 (Machado-Joseph disease). Polysomnography was normal in 1 patient. Two of these patients had had single photon emission computed tomographic imaging of the dopamine transporter 1 year previously. © 2002 Movement Disorder Society [source] Polyglutamine disease: Recent advances in the neuropathology of dentatorubral-pallidoluysian atrophyNEUROPATHOLOGY, Issue 4 2006Mitsunori Yamada Polyglutamine diseases are hereditary neurodegenerative disorders that are caused by the expansion of a CAG repeat in the causative genes. They comprise at least nine disorders, including DRPLA, HD, and Machado-Joseph disease. Initially, the discovery of neuronal intranuclear inclusions (NIIs) in human brains and in a murine model of HD provided a plausible hypothesis that the expression of expanded polyglutamine stretches leads to NII formation, resulting in neuronal cell death in selective brain regions characteristic to each disease. Recent studies, however, suggest that nuclear dysfunction, especially transcriptional abnormalities caused by the diffuse intranuclear accumulation of mutant proteins, plays a pivotal role in the development and progression of clinical symptoms. Polyglutamine diseases have a similarity with neuronal storage disease, and this pathological process might become a target for the establishment of an effective therapy for these diseases. [source] Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patientNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 1 2003U. Rüb U. Rüb, E. R. Brunt, D. Del Turco, R. A. I. de Vos, K. Gierga, H. Paulson and H. Braak (2003) Neuropathology and Applied Neurobiology 29, 1,13 Guildelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient Despite the fact that considerable progress has been made in the last 20 years regarding the three-phase process of ingestion and the lower brain stem nuclei involved in it, no comprehensive descriptions of the ingestion-related lower brain stem nuclei are available for neuropathologists confronted with ingestive malfunctions. Here, we propose guidelines for the pathoanatomical investigation of these nuclei based on current knowledge with respect to ingestion and the nuclei responsible for this process. The application of these guidelines is described by drawing upon the example of the lower brain stem of a male patient with spinocerebellar ataxia type 3, also known as Machado-Joseph disease, who displayed malfunctions during the preparatory phase of ingestion, as well as lingual and pharyngeal phases of swallowing. By way of the representative application of the recommended investigation procedure to 100 µm serial sections through the patient's brain stem stained for lipofuscin pigment and Nissl material, we observed neuronal loss together with astrogliosis in nearly all of the ingestion-related lower brain stem nuclei (motor, principal and spinal trigeminal nuclei; facial nucleus; parvocellular reticular nucleus; ambiguus nucleus, motor nucleus of the dorsal glossopharyngeal and vagal area; gelatinous, medial, parvocellular and pigmented solitary nuclei; hypoglossal nucleus). In view of their known functional role in the three-phase process of ingestion, damage to these nuclei not only offers an explanation of the patient's malfunctions related to the preparatory phase of ingestion and lingual and pharyngeal phases of swallowing, but also suggests that the patient may have suffered from additional esophageal phase swallowing malfunctions not mentioned in his medical records. [source] Clinical correlates of autonomic dysfunction in patients with Machado-Joseph diseaseACTA NEUROLOGICA SCANDINAVICA, Issue 6 2010M. C. França Jr França Jr MC, D'Abreu A, Nucci A, Lopes-Cendes I. Clinical correlates of autonomic dysfunction in patients with Machado-Joseph disease. Acta Neurol Scand: 2010: 121: 422,425. © 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Background,,, Autonomic dysfunction is a usual feature of several neurological conditions characterized by either extra-pyramidal and/or peripheral damage, such as those seen in Machado-Joseph disease (MJD). Aims of the study,,, We used clinical evaluation and sympathetic skin responses (SSR) to assess autonomic function in a large series of patients with MJD. Methods,,, A total of 50 patients were enrolled in this study and all of them had the molecular confirmation of MJD by DNA genotyping. In addition, a group of 20 control subjects was included. Results,,, Overall, autonomic complaints were more frequent in patients than in control subjects, especially those related to the genitourinary and sudomotor systems. Eighteen patients (36%) presented abnormal SSR. Age at onset, duration of disease and length of expanded (CAG)n were not different between patients with and without dysautonomia. However, severe dysautonomia was significantly associated with polyneuropathic or parkinsonian phenotypes in patients with MJD. Conclusion,,, Autonomic symptoms are common, but possibly under recognized in patients with MJD; therefore, we believe that autonomic complaints should be sought in patients with MJD, especially in those with parkinsonian or polyneuropathic phenotypes. [source] | ||||||||||||||||||||||