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PMID: 15372254 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

Journal of neurology ·Vol. 251 ·No. 9 ·2004-09-00 ·Pages 1105-10

Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH

Abstract

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.

MeSH Terms
Adolescent Adult Child Child, Preschool Female Humans Magnetic Resonance Imaging/statistics & numerical data Male Middle Aged Radiography Spastic Paraplegia, Hereditary/diagnostic imaging,genetics,physiopathology Syndrome
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Proukakis Christos
Dept. of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK.
Cross Harold
Patel Heema
Patton Michael A
Valentine Alan
Crosby Andrew H
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Article Info
Journal
Journal of neurology
Abbr.
J Neurol
ISSN
0340-5354
DOI
10.1007/s00415-004-0491-3
Published
2004-09-00
Pages
1105-10
Language
English
Region
Germany
NLM ID
0423161
Subset
IM
External Links
PubMed source DOI: 10.1007/s00415-004-0491-3 View journal details
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