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A patient with early onset Huntington disease and severe cerebellar atrophy

✍ Scribed by Satoru Sakazume; Satoshi Yoshinari; Eiji Oguma; Emi Utsuno; Takuma Ishii; Yoko Narumi; Takashi Shiihara; Hirofumi Ohashi

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
123 KB
Volume
149A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

We report on a girl with early onset Huntington disease (HD). Her initial symptoms at 2 years of age included oral motor dysfunction and gait disturbance. Magnetic resonance imaging of the head revealed severe atrophy of both the vermis and the cerebellar cortex in addition to the common findings of basal ganglia including the caudate nuclei, putamen, and globus pallidus. Molecular analysis showed 160 CAG repeats in the HD gene. This mutation was inherited from her mother who was also affected, with a HD CAG expansion of 60 repeats. Cerebellar symptoms should be considered as a manifestation of early onset HD. Β© 2009 Wiley‐Liss, Inc.

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