Literature DB >> 11245726

Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy.

G D Watts1, K C O'Briant, T E Borreson, A J Windebank, P F Chance.   

Abstract

Hereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant disorder characterized by recurrent episodes of severe arm and shoulder pain with weakness, atrophy, and sensory impairment in a brachial plexus distribution. Recent studies mapped the HNA locus to chromosome 17q25. Two pedigrees with clinically typical HNA in which markers from chromosome 17q25 do not cosegregate with the disease and in which lod scores do not support linkage to chromosome 17q25 were identified.

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Year:  2001        PMID: 11245726     DOI: 10.1212/wnl.56.5.675

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  6 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.  Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

Authors:  Megan L Landsverk; Elizabeth K Ruzzo; Heather C Mefford; Karen Buysse; Jillian G Buchan; Evan E Eichler; Elizabeth M Petty; Esther A Peterson; Dana M Knutzen; Karen Barnett; Martin R Farlow; Judy Caress; Gareth J Parry; Dianna Quan; Kathy L Gardner; Ming Hong; Zachary Simmons; Thomas D Bird; Phillip F Chance; Mark C Hannibal
Journal:  Hum Mol Genet       Date:  2009-01-12       Impact factor: 6.150

5.  SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy.

Authors:  Christopher J Klein; Yanhong Wu; Julie M Cunningham; Anthony J Windebank; P James B Dyck; Scott M Friedenberg; Diane M Klein; Peter J Dyck
Journal:  Arch Neurol       Date:  2009-02

6.  Inflammation and neuropathic attacks in hereditary brachial plexus neuropathy.

Authors:  C J Klein; P J B Dyck; S M Friedenberg; T M Burns; A J Windebank; P J Dyck
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-07       Impact factor: 10.154

  6 in total

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