Document Detail

A novel NGFB point mutation: a phenotype study of heterozygous patients.
MedLine Citation:
PMID:  18420729     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: A family with neurological findings similar to hereditary sensory and autonomic neuropathy type V having a point mutation in the nerve growth factor beta (NGFB) gene was recently described. The homozygous genotype gives disabling symptoms. The purpose of the present study was to evaluate the symptoms in heterozygous patients. METHODS: 26 patients heterozygous for the NGFB mutation (12 men, mean age 50 (13-90) years) were examined clinically and answered a health status questionnaire, including the Michigan Neuropathy Screening Instrument (MNSI). 28 relatives (15 men, mean age 44 (15-86) years) without the mutation served as controls in the clinical examination part. 23 of the heterozygotes were examined neurophysiologically and six heterozygous patients underwent a sural nerve biopsy. RESULTS: The heterozygous phenotype ranged from eight patients with Charcot arthropathy starting in adult age and associated with variable symptoms of neuropathy but without complete insensitivity to pain, anhidrosis or mental retardation, to 10 symptom free patients. There was no difference in MNSI between the young heterozygous cases (<55 years old) and the controls. Six of 23 heterozygous patients had impaired cutaneous thermal perception and 11 of 23 had signs of carpal tunnel syndrome. Sural nerve biopsies showed a moderate reduction of both small myelinated (Adelta) and unmyelinated (C) fibres. No apparent correlation of small fibre reduction to symptoms was found. CONCLUSIONS: The NGFB mutation in its heterozygous form results in a milder disease than in homozygotes, with a variable clinical picture, ranging from asymptomatic cases to those with Charcot arthropathy appearing in adult age. Particularly age, but perhaps lifestyle factors also, may influence the development of clinical polyneuropathy.
J Minde; T Andersson; M Fulford; M Aguirre; I Nennesmo; I Nilsson Remahl; O Svensson; M Holmberg; G Toolanen; G Solders
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-04-17
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  80     ISSN:  1468-330X     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-01-19     Completed Date:  2009-02-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  England    
Other Details:
Languages:  eng     Pagination:  188-95     Citation Subset:  IM    
Department of Orthopaedics, Kallgatan 14, Gällivare Hospital, SE- 982 82 Gällivare, Sweden.
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MeSH Terms
Aged, 80 and over
Chromosomes, Human, Pair 1 / genetics
Hereditary Sensory and Autonomic Neuropathies / genetics
Middle Aged
Nerve Growth Factor / genetics*
Point Mutation / genetics*
Young Adult
Reg. No./Substance:
0/NGF protein, human; 9061-61-4/Nerve Growth Factor

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