Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease
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چکیده
منابع مشابه
Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease
Huntington's disease (HD) is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. Single-photon...
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IMPORTANCE Mutations in SNCA, LRRK2, VPS35, EIF4G1, and DNAJC13 have been implicated in late-onset familial parkinsonism. However, the estimated disease penetrance of these mutations varies widely. OBJECTIVE To compare penetrance of various mutations reported in published genetic studies to improve the understanding of late-onset parkinsonism. DATA SOURCES Forty-nine previously published st...
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ژورنال
عنوان ژورنال: Case Reports in Neurological Medicine
سال: 2011
ISSN: 2090-6668,2090-6676
DOI: 10.1155/2011/696953