[Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)]

Rinsho Shinkeigaku. 2014;54(12):957-9. doi: 10.5692/clinicalneurol.54.957.
[Article in Japanese]

Abstract

Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics
  • Diagnosis, Differential
  • Genetic Testing / methods
  • Hereditary Sensory and Autonomic Neuropathies / classification
  • Hereditary Sensory and Autonomic Neuropathies / diagnosis
  • Hereditary Sensory and Autonomic Neuropathies / genetics*
  • Humans
  • Muscular Atrophy, Spinal / classification
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics*
  • Pathology, Molecular
  • Sequence Analysis, DNA / methods