Phe 84 deletion of the <i>PMP22</i> gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy:: clinical, neurophysiological and magnetic resonance imaging findings

Yener G., Guiochon-Mantel A., BARLIK OBUZ F., Baklan B., Ozturk V., Kovanhkaya I., ...Daha Fazla

JOURNAL OF NEUROLOGY, sa.3, ss.193-196, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1007/s004150170225
  • Dergi Adı: JOURNAL OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.193-196
  • Anahtar Kelimeler: hereditary motor and sensory neuropathy, HMSN III, cranial nerve hypertrophy, gene deletion, MARIE-TOOTH-DISEASE, DEJERINE-SOTTAS-DISEASE, POINT MUTATION, TYPE-1A
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Hereditary motor and sensory neuropathy (HMSN) is a heterogeneous group of peripheral neuropathies which are diagnosed on the basis of clinical, electrophysiological and neuropathological findings. Among the hypertrophic demyelinating neuropathies, HMSN III is the most severe. It is often associated with de novo mutations in the genes encoding for peripheral myelin proteins. While peripheral nerve hypertrophy is an expected finding in HMSN III, cranial, nerve hypertrophy is exceptional. Here we describe a mutation in the PMP22 gene in a 19-year-old man with infantile onset of sensory motor polyneuropathy without family history and multiple cranial nerve hypertrophy shown by cranial magnetic resonance imaging.