On the differential diagnosis of neuropathy in neurogenetic disorders


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

MEDIZINISCHE GENETIK, vol.32, no.3, pp.243-261, 2020 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.1515/medgen-2020-2040
  • Journal Name: MEDIZINISCHE GENETIK
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Page Numbers: pp.243-261
  • Keywords: 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 University Affiliated: Yes

Abstract

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.