ATXN2polymorphism modulates age at onset in Machado-Joseph disease
نویسندگان
چکیده
منابع مشابه
Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph Disease
BACKGROUND Age at onset (AO) in Machado-Joseph disease (MJD) is closely associated with the length of the CAG repeat at the mutant ATXN3 allele, but there are other intervening factors. Experimental evidence indicates that the normal ATXN3 allele and the C-terminal heat shock protein 70 (Hsp70)-interacting protein (CHIP) may be genetic modifiers of AO in MJD. METHODS To investigate this hypot...
متن کاملThe APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease.
OBJECTIVE To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on age at onset of Machado-Joseph disease (MJD). DESIGN We collected blood samples from 192 patients with MJD and typed the APOE polymorphism. Patients The 192 patients with MJD included 59 from the Azores, 73 from mainland Portugal, and 60 from Brazil. SETTING Academic research center. RESULTS Cases ...
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...
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ژورنال
عنوان ژورنال: Brain
سال: 2016
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/aww176