[Silver syndrome--case report].
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-Marie-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.
Kochański
Andrzej
A
Zespół Badawczo-Leczniczy Chorób Nerwowo-Mieśniowych, Instytut Medycyny Dooewiadczalnej i Klinicznej Polskiej Akademii Nauk im. M. Mossakowskiego w Warszawie. andko@cmdik.pan.pl
Dierick
Ines
I
Timmerman
Vincent
V
Hausmanowa-Petrusewicz
Irena
I
D000293:Adolescent; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D016472:Motor Neuron Disease / Q000235:genetics*; D020336:Paraparesis, Spastic / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D013577:Syndrome
C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits