Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms.
View Article and Find Full Text PDFBackground: Huntington's disease (HD) is a fatal progressive neurodegenerative disease characterized by chorea, cognitive impairment and psychiatric symptoms. Retinal examination of HD patients as well as in HD animal models have shown evidence of retinal dysfunction. However, a detailed retinal study employing clinically available measurement tools has not been reported to date in HD.
View Article and Find Full Text PDFWe present a unique thirty-nine year old woman with both Huntington's disease (HD) and spinocerebellar ataxia type 10 (SCA10). She has 48 CAG repeats in the HD gene and 2511 ATTCT repeats in the ATX10 gene. Although both conditions are repeat expansion diseases they are thought to have quite different pathogenic mechanisms.
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