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Title: Reply to Vance et al.

In our report of a family with a motor and sensory polyneuropathy that was linked to chromosome 3q, we classified this neuropathy as a form of hereditary motor and sensory neuropathy II (HMSN II, also known as {open_quotes}CMT2{close_quotes}). Doubts have been raised by Vance et al. as to whether this neuropathy should be classified as hereditary sensory autonomic neuropathy I (HSAN I) instead of HMSN II. While it is reasonable to raise such doubts, we believe that the neuropathy is best designated as HMSN II for the reasons described below. The group of disorders described as HSAN are characterized by primary or predominant involvement of sensory and autonomic neurons that fail to develop or that undergo atrophy and degeneration. These disorders were extensively reviewed by Dyck and Ohta, who initially described them as the hereditary sensory neuropathies (HSN). It was Dyck who subsequently suggested that these disorders be designated HSAN rather than HSN, because of the presence of autonomic involvement. 8 refs.
Authors:
; ; ;  [1]
  1. Washington Univ. School of Medicine, St. Louis, MO (United States)
Publication Date:
OSTI Identifier:
443755
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 59; Journal Issue: 1; Other Information: PBD: Jul 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; NERVOUS SYSTEM DISEASES; PHENOTYPE; DIAGNOSIS; HUMAN CHROMOSOME 3; GENETIC MAPPING; GENES; BIOLOGICAL MARKERS; STATISTICS