[Familial Westphal variant of Huntington's disease. Case report].
Huntington's disease (HD) is commonly recognized, and the most common autosomal dominant neurodegenerative disease of the central nervous system. The major clinical symptoms in adults include mood changes, choreic movements and progressive cognitive decline. Juvenile HD known as Westphal variant presents with significantly different signs characterized mainly by rigidity, myoclonus, and therefore causes diagnostic difficulties. In this paper, we present the patient with Westphal variant of HD in the third generation of women.
Geppert
Anita
A
Katedra i Klinika Neurologii, Akademia Medyczna im. K. Marcinkowskiego w Poznaniu, Poznań. Anita_Geppert@poczta.onet.pl
Losy
Jacek
J
Kozubski
Wojciech
W
D000328:Adult; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000145:classification* / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D010375:Pedigree