Literature DB >> 9150742

Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25.

F Stögbauer1, P Young, V Timmerman, P Spoelders, E B Ringelstein, C Van Broeckhoven, G Kurlemann.   

Abstract

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by unspecific infections or immunization, or are associated with parturition. Minor facial dysmorphic features are present in some pedigrees but do not clearly segregate with the disease. To confirm the recently described HNA locus on distal chromosome 17q, we performed a genetic linkage study in an extended Turkish pedigree. We were able to refine the HNA locus on chromosome 17q24-q25 in a 16-cM region.

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Year:  1997        PMID: 9150742     DOI: 10.1007/s004390050430

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  5 in total

Review 1.  Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

Authors:  Phillip F Chance
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 2.  Clinical and pathophysiological concepts of neuralgic amyotrophy.

Authors:  Nens van Alfen
Journal:  Nat Rev Neurol       Date:  2011-05-10       Impact factor: 42.937

3.  SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Authors:  M C Hannibal; E K Ruzzo; L R Miller; B Betz; J G Buchan; D M Knutzen; K Barnett; M L Landsverk; A Brice; E LeGuern; H M Bedford; B B Worrall; S Lovitt; S H Appel; E Andermann; T D Bird; P F Chance
Journal:  Neurology       Date:  2009-05-19       Impact factor: 9.910

4.  Neuralgic amyotrophy: an underrecognized entity.

Authors:  Tae Uk Kim; Min Cheol Chang
Journal:  J Int Med Res       Date:  2021-04       Impact factor: 1.671

5.  Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

Authors:  Katharina Neubauer; Doris Boeckelmann; Udo Koehler; Julia Kracht; Janbernd Kirschner; Manuela Pendziwiat; Barbara Zieger
Journal:  Cytoskeleton (Hoboken)       Date:  2018-10-10
  5 in total

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