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Hereditary Neuropathies.

Katja Eggermann1, Burkhard Gess, Martin Häusler

  • 1Institute of Human Genetics, Uniklinik RWTH Aachen; Department of Neurology, Uniklinik RWTH Aachen; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, Uniklinik RWTH Aachen; Department of Neuropediatrics, Developmental Medicine and Epileptology, Children's Medical Center; Giessen, University of Giessen; Institute of Neuropathology, Uniklinik RWTH Aachen.

Deutsches Arzteblatt International
|February 27, 2018
PubMed
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Next-generation sequencing (NGS) significantly improves the molecular diagnosis of hereditary neuropathies. While treatments are limited, accurate genetic diagnosis aids family risk assessment and ends the diagnostic odyssey.

Area of Science:

  • Genetics
  • Neurology

Background:

  • Hereditary peripheral neuropathies are common genetic disorders affecting 1 in 2500 individuals.
  • Next-generation sequencing (NGS) has revolutionized the identification of genes linked to these conditions.
  • This review focuses on genetic evaluation for hereditary neuropathies, acknowledging the current lack of causal treatments.

Purpose of the Study:

  • To review the procedures and utility of genetic evaluation for hereditary neuropathies.
  • To discuss the implications of limited causal treatment options for these disorders.

Main Methods:

  • A PubMed search was conducted using terms like "hereditary neuropathy" and "Charcot-Marie-Tooth disease."
  • The review synthesizes findings from pertinent publications on genetic diagnostics for neuropathies.

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Main Results:

  • Diagnostic evaluation typically starts with single-gene testing, followed by NGS for comprehensive analysis.
  • Exome and genome sequencing are reserved for specific indications.
  • Ruling out other neuropathy causes and recognizing gene pleiotropy necessitate interdisciplinary assessment.

Conclusions:

  • NGS has greatly enhanced the success of molecular diagnosis for neuropathies.
  • Accurate diagnosis provides closure for patients and facilitates family genetic risk assessment.
  • Development of causally directed treatments remains an ongoing challenge.