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[Hereditary neural amyotrophy (HNA): clinical and molecular genetic basis].

作者信息

Stögbauer F, Young P, Kuhlenbäumer G, Meuleman J, Timmerman V, van Broeckhoven C, Kurlemann G, Ringelstein E B

机构信息

Klinik und Poliklinik für Neurologie, Westfälische Wilhelms-Universität Münster.

出版信息

Fortschr Neurol Psychiatr. 1998 Jan;66(1):10-4. doi: 10.1055/s-2007-995234.

Abstract

Hereditary neuralgic amyotrophy (HNA) and hereditary neuropathy with liability to pressure palsies (HNPP) are hereditary focal neuropathies. In this study we describe three families suffering from HNA. These families were examined clinically and electrophysiologically. Linkage analysis with markers from distal chromosome 17 was performed in a three-generation family. HNA could be separated from HNPP in all three families based on clinical and electrophysiological findings. HNA was characterised by recurrent episodes of painful brachial plexus lesions. In contrast to HNPP, no evidence for generalised neuropathy was found in the HNA families. Linkage analysis confirmed the HNA locus on distal chromosome 17. Additionally, we were able to refine the HNA locus to a 16 cM region on chromosome 17q24-q25.

摘要

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