Mutation Detection in Machado-Joseph Disease Using Repeat Expansion Detection
نویسندگان
چکیده
منابع مشابه
Mutation detection in Machado-Joseph disease using repeat expansion detection.
BACKGROUND Several neurological disorders have recently been explained through the discovery of expanded DNA repeat sequences. Among these is Machado-Joseph disease, one of the most common spinocerebellar ataxias (MJD/SCA3), caused by a CAG repeat expansion on chromosome 14. A useful way of detecting repeat sequence mutations is offered by the repeat expansion detection method (RED), in which a...
متن کاملMuscle excitability abnormalities in Machado-Joseph disease.
OBJECTIVES To estimate the frequency of and to characterize muscle excitability abnormalities in Machado-Joseph disease (MJD). DESIGN Machado-Joseph disease is a common autosomal dominant cerebellar ataxia caused by an unstable CAG trinucleotide repeat expansion. Muscle cramps and fasciculations are frequent and sometimes disabling manifestations. However, their frequency and pathophysiologic...
متن کاملCerebral cortex involvement in Machado-Joseph disease.
BACKGROUND AND PURPOSE Machado-Joseph disease (MJD/SCA3) is the most frequent spinocerebellar ataxia, characterized by brainstem, basal ganglia and cerebellar damage. Few magnetic resonance imaging based studies have investigated damage in the cerebral cortex. The objective was to determine whether patients with MJD/SCA3 have cerebral cortex atrophy, to identify regions more susceptible to dama...
متن کاملAutonomic dysfunction in Machado-Joseph disease.
OBJECTIVE Machado-Joseph disease is an autosomal dominant spinocerebellar ataxia with expanded trinucleotide repeats. Although autonomic nervous system degeneration was documented in postmortem reports, the autonomic dysfunction in patients with Machado-Joseph disease, either in clinical analysis or electrophysiological investigations, has not yet been studied in detail. METHODS Fifteen patie...
متن کاملCognitive impairments in Machado-Joseph disease.
BACKGROUND Cognitive function of Machado-Joseph disease (MJD) patients has not been clarified. OBJECTIVES To determine the characteristics of cognitive dysfunction in MJD patients and to assess the relationship of dysfunction to age at onset, age at examination, disease duration, education, ataxia, depression, anxiety, and CAG repeat length. DESIGN Case-control study. SETTING Research-ori...
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ژورنال
عنوان ژورنال: Molecular Medicine
سال: 1996
ISSN: 1076-1551,1528-3658
DOI: 10.1007/bf03402204