Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation

M. Ueda, N. Kawamura, T. Tateishi, N. Sakae, K. Motomura, Y. Ohyagi, Jun-Ichi Kira

Research output: Contribution to journalArticle

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Abstract

Background: Hereditary neuralgic amyotrophy (HNA), also known as hereditary brachial plexus neuropathy, has phenotypic and genetic heterogeneity. Mutations in the septin 9 (SEPT9) gene were recently identified in some HNA patients. The phenotypic spectrum of HNA caused by SEPT9 mutations is not well known. Objective: To characterise the phenotype of a large family of HNA patients with the SEPT9 R88W mutation. Methods: We report clinical, electrophysiological, neuroimaging and genetic findings of six HNA patients from a Japanese family. Results: All 17 neuropathic episodes identified were selectively and asymmetrically distributed in the upperlimb nerves. Severe pain was an initial symptom in 16 episodes (94%). Motor weakness occurred in 15 (88%) and sensory signs in 10 (59%). A minor dysmorphism, hypotelorism, was seen in all. Nerve conduction studies revealed focal demyelination as well as prominent axonal degeneration changes. Needle electromyography revealed chronic neurogenic patterns only in the upper limbs. An MRI study showed a gadolinium-enhanced brachial plexus. The missense mutation c.262C>T; p.R88W was found in exon 2 of SEPT9 in all patients. Conclusions: The SEPT9 R88W mutation in this family causes selective involvement of the brachial plexus and upper-limb nerves. Wider and more universal recognition of clinical hallmarks and genetic counselling are of diagnostic importance for HNA caused by the SEPT9 mutation.

Original languageEnglish
Pages (from-to)94-96
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume81
Issue number1
DOIs
Publication statusPublished - Jan 2010

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Brachial Plexus Neuritis
Septins
Mutation
Brachial Plexus
Upper Extremity
Genetic Heterogeneity
Neural Conduction
Genetic Counseling
Gadolinium
Electromyography
Demyelinating Diseases
Missense Mutation
Neuroimaging
Needles
Exons
Phenotype
Pain

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery

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Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation. / Ueda, M.; Kawamura, N.; Tateishi, T.; Sakae, N.; Motomura, K.; Ohyagi, Y.; Kira, Jun-Ichi.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 81, No. 1, 01.2010, p. 94-96.

Research output: Contribution to journalArticle

Ueda, M. ; Kawamura, N. ; Tateishi, T. ; Sakae, N. ; Motomura, K. ; Ohyagi, Y. ; Kira, Jun-Ichi. / Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation. In: Journal of Neurology, Neurosurgery and Psychiatry. 2010 ; Vol. 81, No. 1. pp. 94-96.
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