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A patient with early onset Huntington disease and severe cerebellar atrophy
Author(s) -
Sakazume Satoru,
Yoshinari Satoshi,
Oguma Eiji,
Utsuno Emi,
Ishii Takuma,
Narumi Yoko,
Shiihara Takashi,
Ohashi Hirofumi
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32707
Subject(s) - putamen , basal ganglia , globus pallidus , huntington's disease , atrophy , cerebellar vermis , cerebellum , medicine , gait disturbance , motor symptoms , age of onset , pathology , neuroscience , psychology , disease , parkinson's disease , central nervous system , physical medicine and rehabilitation
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. © 2009 Wiley‐Liss, Inc.