Publication
Title
Silver syndrome : case report
Author
Abstract
Silver syndrome (Silver spastic paraplegia syndrome) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and peripheral neuropathy. The Underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families. Silver syndrome related to the N88S mutation In the BSCL2 gene is characterized by a spectrum of clinical findings. The coexistence of sensory fiber damage and motor deficit leads to the diagnosis of Charcot-Marle-Tooth disease in some patients, while others are diagnosed with spastic paresis due to predominant pyramidal symptoms. If the symptoms are limited to the motor deficit, hereditary motor neuropathy is diagnosed in some cases. In this report, we describe a case of the Silver syndrome in a Polish family that has been verified by genetic testing. Due to the lack of pyramidal symptoms and slightly expressed sensory fiber damage (in neurographic studies), motor neuropathy type of the Silver syndrome with minor sensory component was diagnosed.
Language
English
Source (journal)
Neurologia i neurochirurgia polska / Erich schmidt verlag. - Copenhagen
Publication
Copenhagen : 2007
ISSN
0028-3843
Volume/pages
41:6(2007), p. 562-566
ISI
000258521600010
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 03.01.2013
Last edited 03.05.2017
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