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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Dr. med. G. Kuhlenbäumer
Klinik und Poliklinik für Neurologie · Westfälische Wilhelms-Universität Münster,
Münster
Albert-Schweitzer-Straße 33
48129 Münster
eMail: gkuhlen@uni-muenster.de
