Pressure Palsy as the Initial Presentation in a Case of Late-onset Charcot-Marie-Tooth Disease Type 1A

Yoshinori ABE; Tohru IKEGAMI; Kiyoshi HAYASAKA; Yoshihiro TANNO; Takako WATANABE; Yasuji SUGIYAMA; Teiji YAMAMOTO

doi:10.2169/internalmedicine.36.501

Yoshinori ABE, Tohru IKEGAMI, Kiyoshi HAYASAKA, Yoshihiro TANNO, Takako WATANABE, Yasuji SUGIYAMA, Teiji YAMAMOTO

著者情報

キーワード: hereditary motor and sensory neuropathy, peripheral myelin protein-22 gene (PMP22), duplication, hereditary neuropathy with liability to pressure palsies (HNPP)

ジャーナルフリー

1997 年 36 巻 7 号 p. 501-503

DOI https://doi.org/10.2169/internalmedicine.36.501

詳細

抄録

We report siblings of late-onset Charcot-Marie-Tooth disease type 1A (CMT1A) of whom the elder brother presented with drop foot. DNA analysis confirmed the 17p11.2-p12 duplication. Estimation of the age of onset is difficult in CMT1A because of the subtle and slow progress of the symptoms. These cases are unique in that the initial clinical manifestation was a pressure palsy in the brother and both siblings were quite delayed in their clinical presentations. The peripheral myelin protein-22 gene duplication is uniformly found in CMT1A patients. However, other factors influencing the disease manifestations are yet to be determined.
(Internal Medicine 36: 501-503, 1997)

責任著者(Corresponding author)

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