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Familial Creutzfeldt-Jakob disease with D178N-129M mutation ofPRNP presenting as cerebellar ataxia without insomnia
  1. Y TANIWAKI,
  2. H HARA
  1. Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Japan
  2. Department of Neuropathology
  3. Department of Neurology
  4. Department of neuropathology
  5. Department of Neurology
  6. Department of neuropathology
  7. Department of Neurology,
  1. Dr Yoshihide Taniwaki, Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3–1–1 Maidashi, Higashi-ku, Fukuoka 812–8582, Japan email taniwaki{at}enjoy.ne.jp
  1. K DOH-URA
  1. Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Japan
  2. Department of Neuropathology
  3. Department of Neurology
  4. Department of neuropathology
  5. Department of Neurology
  6. Department of neuropathology
  7. Department of Neurology,
  1. Dr Yoshihide Taniwaki, Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3–1–1 Maidashi, Higashi-ku, Fukuoka 812–8582, Japan email taniwaki{at}enjoy.ne.jp
  1. I MURAKAMI
  1. Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Japan
  2. Department of Neuropathology
  3. Department of Neurology
  4. Department of neuropathology
  5. Department of Neurology
  6. Department of neuropathology
  7. Department of Neurology,
  1. Dr Yoshihide Taniwaki, Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3–1–1 Maidashi, Higashi-ku, Fukuoka 812–8582, Japan email taniwaki{at}enjoy.ne.jp
  1. H TASHIRO
  1. Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Japan
  2. Department of Neuropathology
  3. Department of Neurology
  4. Department of neuropathology
  5. Department of Neurology
  6. Department of neuropathology
  7. Department of Neurology,
  1. Dr Yoshihide Taniwaki, Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3–1–1 Maidashi, Higashi-ku, Fukuoka 812–8582, Japan email taniwaki{at}enjoy.ne.jp
  1. T YAMASAKI,
  2. H SHIGETO,
  3. K ARAKAWA,
  4. E ARAKI,
  5. T YAMADA
  1. Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Japan
  2. Department of Neuropathology
  3. Department of Neurology
  4. Department of neuropathology
  5. Department of Neurology
  6. Department of neuropathology
  7. Department of Neurology,
  1. Dr Yoshihide Taniwaki, Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3–1–1 Maidashi, Higashi-ku, Fukuoka 812–8582, Japan email taniwaki{at}enjoy.ne.jp
  1. T IWAKI
  1. Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Japan
  2. Department of Neuropathology
  3. Department of Neurology
  4. Department of neuropathology
  5. Department of Neurology
  6. Department of neuropathology
  7. Department of Neurology,
  1. Dr Yoshihide Taniwaki, Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3–1–1 Maidashi, Higashi-ku, Fukuoka 812–8582, Japan email taniwaki{at}enjoy.ne.jp
  1. J KIRA
  1. Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Japan
  2. Department of Neuropathology
  3. Department of Neurology
  4. Department of neuropathology
  5. Department of Neurology
  6. Department of neuropathology
  7. Department of Neurology,
  1. Dr Yoshihide Taniwaki, Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3–1–1 Maidashi, Higashi-ku, Fukuoka 812–8582, Japan email taniwaki{at}enjoy.ne.jp

https://doi.org/10.1136/jnnp.68.3.388

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    Fatal familial insomnia (FFI) is a prion disease clinically characterised by progressive insomnia and dysautonomia, and associated with an aspartic acid to asparagine mutation at the codon 178 (D178N) of the prion protein gene (PRNP).1 This mutation is also associated with familial Creutzfeldt-Jakob disease (CJD). These phenotypes have been held to depend on the polymorphism at the codon 129. FFI and CJD phenotypes are associated with methionine (129M) and valine (129V) polymorphisms, respectively.2 However, the diverse phenotypes can be associated with D178N-129M genotype.3 4 We here report on a Japanese family with D178N-129M genotype presenting cerebellar ataxia without overt insomnia.

    Pedigree of the family and genotypes. (A) Pedigree of the family. Squares, males; circles, females; triangles, either sex (to protect the confidentiality of the family, the sexes of these people are not shown). Filled symbols, affected; shaded symbols, genotype only examined; slashed symbols, deceased; numbers, ages of onset. (B) Tth 111I and Nsp I restriction analyses of the 848 bp open reading frame of PRNP. The Tth 111I-non-digested band of 848 bp indicates D178N mutation. The Nsp I-non-digested band of 502 bp indicates 129V polymorphism and the 427 bp …

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