Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Gewählte Publikation:

Auer-Grumbach, M; Fazekas, F; Radner, H; Irmler, A; Strasser-Fuchs, S; Hartung, HP.
Troyer syndrome: a combination of central brain abnormality and motor neuron disease?
J Neurol. 1999; 246(7):556-561 (- Case Report)
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Autor/innen der Med Uni Graz:
Auer-Grumbach Michaela
Fazekas Franz
Fuchs Siegrid

Dimensions Citations:

Plum Analytics:
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous disorders consisting of pure and complicated forms. A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms. We report here an Austrian family with two individuals who exhibit all the features of Troyer syndrome, and provide additional data on this disorder. Electrophysiological studies showed chronic denervation and reduced motor nerve conduction velocities but normal sensory potentials. Muscle biopsy revealed a neurogenic pattern while the sural nerve was normal on histological examination. Brain abnormalities on magnetic resonance imaging consisted of a thin corpus callosum with a poorly developed cingulate gyrus and mild periventricular signal hyperintensities. These findings characterize the Troyer syndrome as a disorder of the first and second motor neuron with additional damage in the brain. The morphological features observed in this family may contribute to the grouping and subsequent understanding of complicated forms of hereditary spastic paraplegia, together with similar observations in other, more recently reported families.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Biopsy -
Corpus Callosum - abnormalities
Female - abnormalities
Hand - abnormalities
Humans - abnormalities
Magnetic Resonance Imaging - abnormalities
Motor Neuron Disease - genetics
Muscle, Skeletal - pathology
Neural Conduction - pathology
Pedigree - pathology
Spastic Paraplegia, Hereditary - genetics
Syndrome - genetics

Find related publications in this database (Keywords)
Troyer Syndrome
Motor Neuron Disease
Thin Corpus Callosum
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