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Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.

Authors
  • Falcão de Campos, Catarina1
  • Vidailhet, Marie2
  • Toutain, Annick3
  • de Becdelièvre, Alix4
  • Funalot, Benoît4
  • Bonello-Palot, Nathalie5
  • Stojkovic, Tanya6
  • 1 Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal. , (Portugal)
  • 2 APHP, GH Pitié-Salpêtrière, Department of Neurology, ICM and Sorbonne University, Paris, France. , (France)
  • 3 Genetics Department, University Hospital, UMR 1253 iBrain, Inserm, Université de Tours, Tours, France. , (France)
  • 4 APHP, Hôpital Henri Mondor, Department of Medical Genetics, Université Paris-Est-Créteil, Inserm UMR955, Créteil, France. , (France)
  • 5 APHM, Hôpital de la Timone, Department of Medical Genetics, Marseille, France. , (France)
  • 6 APHP, GH-Pitié-Salpêtrière, Centre de référence des maladies neuromusculaires, Paris, France. , (France)
Type
Published Article
Journal
Journal of the peripheral nervous system : JPNS
Publication Date
Dec 01, 2019
Volume
24
Issue
4
Pages
354–358
Identifiers
DOI: 10.1111/jns.12352
PMID: 31596031
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, characterized by severe and progressive sensation impairment, leading to ulcero-mutilating complications. FAM134B gene, also known as RETREG1 gene, mutations have been reported to be associated to HSAN-IIB. We report four patients from two unrelated families who developed during childhood a sensory axonal neuropathy with variable severity and pronounced nociception impairment. Complications such as recurrent ulcerations, osteomyelitis, and osteonecrosis leading to distal amputation were noticed. Dysautonomia was mild or even absent in our group of patients. Additionally, either clinical or neurophysiological motor impairment was not uncommon. Presence of upper motor neuron signs was also a distinctive feature in two related patients. After extensive workup, two novel homozygous mutations in the FAM134B gene were identified. This report expands the clinical and genetic spectrum of HSAN type II and emphasizes the phenotype variability even within the same family. © 2019 Peripheral Nerve Society.

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