Silver Syndrome and CMT

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Neurol Neurochir Pol. 2007 Nov-Dec;41(6):562-6.

Silver syndrome--case report

Kochanski A, Dierick I, Timmerman V, Hausmanowa-Petrusewicz I.

Zespol Badawczo-Leczniczy Chorob Nerwowo-Miesniowych, Instytut

Medycyny Dooewiadczalnej i Klinicznej Polskiej Akademii Nauk im. M.

Mossakowskiego Warszawie.

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.