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Clinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP)
First author：bin chen
Corresponding author：zaiqiang zhang
essential_information
2017-11-03
Published articles
Journal：Journal of Clinical Neuroscience
Publication type: Original Contributions
IF(IF): 1.961
PMID: 29108667 Link To Pubmed Full text Download
Background And Purpose
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.
Method
This study summarizes the clinical, electrophysiological, genetic, and imaging features of six unrelated Chinese Han patients with HNPP.
Conclusion
There was no relationship between the Ile92Val variant of LITAF and age of onset in this group, albeit the sample size was very small.
Main results
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 nextgeneration-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.