Genetically confirmed Huntington's disease masquerading as motor neuron disease.
We describe a patient with Huntington's disease (HD) who showed asymmetrical upper limb amyotrophy as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain as-yet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis.
Kanai
Kazuaki
K
Department of Neurology, Chiba University Graduate School of Medicine, Chiba, Japan. vzr03355@nifty.ne.jp
Kuwabara
Satoshi
S
Sawai
Setsu
S
Nakata
Miho
M
Misawa
Sonoko
S
Isose
Sagiri
S
Hirano
Shigeki
S
Kawaguchi
Naoki
N
Katayama
Kaoru
K
Hattori
Takamichi
T
D000328:Adult; D001132:Arm / Q000503:physiopathology; D003937:Diagnosis, Differential; D004576:Electromyography; D005820:Genetic Testing; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D016472:Motor Neuron Disease / Q000175:diagnosis*; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins