Sakazume Satoru, Yoshinari Satoshi, Oguma Eiji, Utsuno Emi, Ishii Takuma, Narumi Yoko, Shiihara Takashi, Ohashi Hirofumi
Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan.
Am J Med Genet A. 2009 Feb 15;149A(4):598-601. doi: 10.1002/ajmg.a.32707.
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.
