TY - JOUR
T1 - Troyer syndrome revisited
T2 - A clinical and radiological study of a complicated hereditary spastic paraplegia
AU - Proukakis, Christos
AU - Cross, Harold
AU - Patel, Heema
AU - Patton, Michael A.
AU - Valentine, Alan
AU - Crosby, Andrew H.
PY - 2004/9
Y1 - 2004/9
N2 - Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. The cardinal features are spastic paraparesis, pseudobulbar palsy and distal amyotrophy, together with mild developmental delay and subtle skeletal abnormalities. We report a detailed evaluation of 21 cases of Troyer syndrome in the same Amish population, including three from the original study. Imaging of the brain revealed white matter abnormalities, particularly in the temporoparietal periventricular area. This study, coupled with the recent identification of the gene responsible (SPG20, encoding spartin), increases our understanding of this form of HSP.
AB - Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. The cardinal features are spastic paraparesis, pseudobulbar palsy and distal amyotrophy, together with mild developmental delay and subtle skeletal abnormalities. We report a detailed evaluation of 21 cases of Troyer syndrome in the same Amish population, including three from the original study. Imaging of the brain revealed white matter abnormalities, particularly in the temporoparietal periventricular area. This study, coupled with the recent identification of the gene responsible (SPG20, encoding spartin), increases our understanding of this form of HSP.
KW - Distal amyotrophy
KW - Hereditary spastic paraplegia
KW - SPG20
KW - Spartin
KW - Troyer syndrome
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U2 - 10.1007/s00415-004-0491-3
DO - 10.1007/s00415-004-0491-3
M3 - Article
C2 - 15372254
AN - SCOPUS:4644268519
SN - 0340-5354
VL - 251
SP - 1105
EP - 1110
JO - Journal of Neurology
JF - Journal of Neurology
IS - 9
ER -