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Titolo:
HEREDITARY NEURALGIC AMYOTROPHY (HNA) - C LINICAL FINDINGS AND MOLECULAR-GENETICS
Autore:
STOGBAUER F; YOUNG P; KUHLENBAUMER G; MEULEMAN J; TIMMERMAN V; VANBROECKHOVEN C; KURLEMANN G; RINGELSTEIN EB;
Indirizzi:
UNIV MUNSTER,NEUROL KLIN & POLIKLIN,ALBERT SCHWEITZER STR 33 D-48129 MUNSTER GERMANY UNIV MUNSTER,KLIN & POLIKLIN PADIATRIE,NERUOPADIATR BEREICH D-48129 MUNSTER GERMANY UNIV INSTELLING ANTWERP,BORN BUNGE FDN,FLANDERS INTERUNIV INST BIOTECHNOL,NEUROGENET LAB ANTWERP BELGIUM
Titolo Testata:
Fortschritte der Neurologie, Psychiatrie
fascicolo: 1, volume: 66, anno: 1998,
pagine: 10 - 14
SICI:
0720-4299(1998)66:1<10:HNA(-C>2.0.ZU;2-L
Fonte:
ISI
Lingua:
GER
Soggetto:
BRACHIAL-PLEXUS NEUROPATHY; PRESSURE PALSIES; CHROMOSOME 17Q; LIABILITY; FEATURES; DELETION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
F. Stogbauer et al., "HEREDITARY NEURALGIC AMYOTROPHY (HNA) - C LINICAL FINDINGS AND MOLECULAR-GENETICS", Fortschritte der Neurologie, Psychiatrie, 66(1), 1998, pp. 10-14

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 distalchromosome 17. Additionally, we were able to refine the HNA locus to a 16 cM region on chromosome 17q24-q25.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/21 alle ore 16:21:24