A patient with early onset Huntington disease and severe cerebellar atrophy.
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.
Sakazume
Satoru
S
Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan. saka377@gcmc.pref.gunma.jp
Yoshinari
Satoshi
S
Oguma
Eiji
E
Utsuno
Emi
E
Ishii
Takuma
T
Narumi
Yoko
Y
Shiihara
Takashi
T
Ohashi
Hirofumi
H
D017668:Age of Onset; D020132:Anticipation, Genetic; D001284:Atrophy; D001483:Base Sequence; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009035:Mothers; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion
D017931:DNA Primers; C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins