Erbliche Neuropathien

Zusammenfassung

Erbliche Neuropathien sind die häufigsten monogenetisch vererbten Krankheiten des Nervensystems. Die Prävalenz der hereditären motorischen und sensiblen Neuropathie Typ 1 A (HMSN 1A, synonym mit CMT 1A) wird auf bis zu 1/2500 geschätzt. Anfang der 90er Jahre wurde eine Duplikation auf Chromosom 17p als Ursache der CMT 1A identifiziert. Seitdem wurden über 25 unterschiedliche chromosomale Loki für hereditäre Neuropathien kartiert und ursächliche Mutationen in zwölf Genen identifiziert. Dieser Übersichtsartikel stellt den gegenwärtigen Stand der Wissenschaft auf klinischem und genetischem Gebiet sowie die Konsequenzen für die Diagnostik primärer hereditärer Neuropathien dar.

Abstract

Hereditary neuropathies are the most common monogenetically inherited diseases of the nervous system. The prevalence of hereditary motor and sensory neuropathy type 1 A (HMSN 1A, synonymous with CMT 1A) is estimated to be as high as 1/2500. At the beginning of the last decade a duplication on chromosome 17p was identified as the cause of CMT 1A. Since then more than 25 genetic loci for hereditary neuropathies have been mapped and causative mutations in 12 genes identified. This review summarises the clinical and genetical scientific progress, as well as its consequences for the diagnosis of primary hereditary neuropathies.

Key words

Hereditary neuropathy - Classification - Genetics - Pathomechanism

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