PMID- 29108667
OWN - NLM
STAT- MEDLINE
DCOM- 20180627
LR  - 20221207
IS  - 1532-2653 (Electronic)
IS  - 0967-5868 (Linking)
VI  - 48
DP  - 2018 Feb
TI  - Clinical, electrophysiological, genetic, and imaging features of six Chinese Han 
      patients with hereditary neuropathy with liability to pressure palsies (HNPP).
PG  - 133-137
LID - S0967-5868(17)31060-3 [pii]
LID - 10.1016/j.jocn.2017.10.069 [doi]
AB  - Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal 
      dominant peripheral neuropathy caused by mutations in the peripheral myelin 
      protein 22 (PMP22) gene. This study summarizes the clinical, 
      electrophysiological, genetic, and imaging features of six unrelated Chinese Han 
      patients with HNPP. Age of onset was within the second decade in five patients, 
      and 46 years of age in one patient. Weakness or numbness in a unilateral lower 
      extremity was the most common symptom in 5 patients, and bilateral sensorineural 
      hearing loss was also detected in one patient. Electrophysiological presentations 
      suggested demyelinating sensory-motor polyneuropathy in the group. Magnetic 
      resonance imaging (MRI) of the cervical and lumbar spine revealed varying degrees 
      of degeneration in five patients, and mild kyphosis of cervical vertebral bodies 
      in 2 teen-aged patients. In addition, cranial MRI of one patient showed scattered 
      demyelination in the frontal lobes. Targeted next-generation-sequencing (NGS) 
      revealed a PMP22 deletion in five patients and a heterozygous c.199G>A mutation 
      in exon 4 of PMP22 in one patient. The I92V variant of lipopolysaccharide-induced 
      tumor necrosis factor (LITAF) gene was found in one patient. There was no 
      relationship between the Ile92Val variant of LITAF and age of onset in this 
      group, albeit the sample size was very small.
CI  - Copyright (c) 2017 Elsevier Ltd. All rights reserved.
FAU - Chen, Bin
AU  - Chen B
AD  - Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 
      China National Clinical Research Center for Neurological Diseases, Beijing 
      100050, China.
FAU - Niu, Songtao
AU  - Niu S
AD  - Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 
      China National Clinical Research Center for Neurological Diseases, Beijing 
      100050, China.
FAU - Wang, Xingao
AU  - Wang X
AD  - Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 
      China National Clinical Research Center for Neurological Diseases, Beijing 
      100050, China.
FAU - Li, Wei
AU  - Li W
AD  - Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 
      China National Clinical Research Center for Neurological Diseases, Beijing 
      100050, China.
FAU - Chen, Na
AU  - Chen N
AD  - Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 
      China National Clinical Research Center for Neurological Diseases, Beijing 
      100050, China.
FAU - Zhang, Zaiqiang
AU  - Zhang Z
AD  - Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 
      China National Clinical Research Center for Neurological Diseases, Beijing 
      100050, China. Electronic address: ttyy0142011@126.com.
LA  - eng
PT  - Journal Article
DEP - 20171103
PL  - Scotland
TA  - J Clin Neurosci
JT  - Journal of clinical neuroscience : official journal of the Neurosurgical Society 
      of Australasia
JID - 9433352
RN  - 0 (LITAF protein, human)
RN  - 0 (Myelin Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 0 (Transcription Factors)
RN  - Tomaculous neuropathy
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Arthrogryposis/*diagnostic imaging/*genetics/physiopathology
MH  - Asian People
MH  - Child
MH  - Electrodiagnosis
MH  - Female
MH  - Genetic Variation
MH  - Hereditary Sensory and Motor Neuropathy/*diagnostic 
      imaging/*genetics/physiopathology
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Middle Aged
MH  - Mutation/genetics
MH  - Myelin Proteins/genetics
MH  - Neural Conduction
MH  - Nuclear Proteins/genetics
MH  - Retrospective Studies
MH  - Spine/diagnostic imaging
MH  - Transcription Factors/genetics
MH  - Young Adult
OTO - NOTNLM
OT  - Cervical spine
OT  - Han Chinese
OT  - LITAF
OT  - MRI
OT  - PMP22
EDAT- 2017/11/08 06:00
MHDA- 2018/06/28 06:00
CRDT- 2017/11/08 06:00
PHST- 2017/06/05 00:00 [received]
PHST- 2017/10/14 00:00 [revised]
PHST- 2017/10/22 00:00 [accepted]
PHST- 2017/11/08 06:00 [pubmed]
PHST- 2018/06/28 06:00 [medline]
PHST- 2017/11/08 06:00 [entrez]
AID - S0967-5868(17)31060-3 [pii]
AID - 10.1016/j.jocn.2017.10.069 [doi]
PST - ppublish
SO  - J Clin Neurosci. 2018 Feb;48:133-137. doi: 10.1016/j.jocn.2017.10.069. Epub 2017 
      Nov 3.