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April 30, 2013; 80 (18) Article

Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation

Junhui Yuan, Eiji Matsuura, Yujiro Higuchi, Akihiro Hashiguchi, Tomonori Nakamura, Satoshi Nozuma, Yusuke Sakiyama, Akiko Yoshimura, Shuji Izumo, Hiroshi Takashima
First published April 17, 2013, DOI: https://doi.org/10.1212/WNL.0b013e3182904fdd
Junhui Yuan
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Eiji Matsuura
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Yujiro Higuchi
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Akihiro Hashiguchi
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Tomonori Nakamura
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Satoshi Nozuma
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Yusuke Sakiyama
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Akiko Yoshimura
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Shuji Izumo
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Hiroshi Takashima
From the Department of Neurology and Geriatrics (J.Y., E.M., Y.H., A.H., T.N., S.N., Y.S., A.Y., H.T.), Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima; and Department of Molecular Pathology (S.I.), Center for Chronic Viral Diseases, Kagoshima University School of Medicine, Kagoshima, Japan.
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Citation
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation
Junhui Yuan, Eiji Matsuura, Yujiro Higuchi, Akihiro Hashiguchi, Tomonori Nakamura, Satoshi Nozuma, Yusuke Sakiyama, Akiko Yoshimura, Shuji Izumo, Hiroshi Takashima
Neurology Apr 2013, 80 (18) 1641-1649; DOI: 10.1212/WNL.0b013e3182904fdd

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Abstract

Objective: To identify the clinical features of Japanese patients with suspected hereditary sensory and autonomic neuropathy (HSAN) on the basis of genetic diagnoses.

Methods: On the basis of clinical, in vivo electrophysiologic, and pathologic findings, 9 Japanese patients with sensory and autonomic nervous dysfunctions were selected. Eleven known HSAN disease–causing genes and 5 related genes were screened using a next-generation sequencer.

Results: A homozygous mutation, c.3993delGinsTT, was identified in exon 22 of SCN9A from 2 patients/families. The clinical phenotype was characterized by adolescent or congenital onset with loss of pain and temperature sensation, autonomic nervous dysfunctions, hearing loss, and hyposmia. Subsequently, this mutation was discovered in one of patient 1's sisters, who also exhibited sensory and autonomic nervous system dysfunctions, with recurrent fractures being the most predominant feature. Nerve conduction studies revealed definite asymmetric sensory nerve involvement in patient 1. In addition, sural nerve pathologic findings showed loss of large myelinated fibers in patient 1, whereas the younger patient showed normal sural nerve pathology.

Conclusions: We identified a novel homozygous mutation in SCN9A from 2 Japanese families with autosomal recessive HSAN. This loss-of-function SCN9A mutation results in disturbances in the sensory, olfactory, and autonomic nervous systems. We propose that SCN9A mutation results in the new entity of HSAN type IID, with additional symptoms including hyposmia, hearing loss, bone dysplasia, and hypogeusia.

GLOSSARY

CIP=
channelopathy-associated insensitivity to pain;
CMAP=
compound muscle action potentials;
HSAN=
hereditary sensory and autonomic neuropathy;
NaV1.7=
voltage-gated sodium channel;
dbSNP=
single nucleotide polymorphism database;
SCV=
sensory nerve conduction velocity;
SCN9A=
sodium channel, voltage-gated, type 9, α;
SNAP=
sensory nerve action potentials

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Supplemental data at www.neurology.org

  • Received November 2, 2012.
  • Accepted in final form January 18, 2013.
  • © 2013 American Academy of Neurology
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