On the differential diagnosis of neuropathy in neurogenetic disorders

Cirak S., Daimaguler H., Moawia A., Koy A., YİŞ U.

MEDIZINISCHE GENETIK, cilt.32, sa.3, ss.243-261, 2020 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/medgen-2020-2040
  • Dergi Adı: MEDIZINISCHE GENETIK
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.243-261
  • Anahtar Kelimeler: neuropathy, neurogenetic diseases, metabolic diseases, motor-neuron diseases, POLYGLUCOSAN BODY DISEASE, PERIPHERAL NEUROPATHY, TANGIER DISEASE, HOMOZYGOUS MUTATION, PHENOTYPIC SPECTRUM, MUSCULAR-DYSTROPHY, CLINICAL SPECTRUM, FRIEDREICH ATAXIA, NATURAL-HISTORY, RNA-METABOLISM
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Neuropathy might be the presenting or accompanying sign in many neurogenetic and metabolic disorders apart from the classical-peripheral neuropathies or motor-neuron diseases. This causes a diagnostic challenge which is of particular relevance since a number of the underlying diseases could be treated. Thus, we attempt to give a clinical overview on the most common genetic diseases with clinically manifesting neuropathy.