Cognitive Impairments in Machado-Joseph Disease

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Cognitive 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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Muscle 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...

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Cerebral 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...

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Autonomic 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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The Natural History of Machado-Joseph Disease

We have examined 138 cases of a disorder previously described in people of Portuguese origin and which has received many names. By computer analysis of 46 different items of a standardized neurological examination carried out in each patient, we have been able to delineate the main components of the clinical presentation, to conclude that the marked variability in clinical expressions does not ...

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ژورنال

عنوان ژورنال: Archives of Neurology

سال: 2004

ISSN: 0003-9942

DOI: 10.1001/archneur.61.11.1757