PMID- 10463356
OWN - NLM
STAT- MEDLINE
DCOM- 19991026
LR  - 20190831
IS  - 0340-5354 (Print)
IS  - 0340-5354 (Linking)
VI  - 246
IP  - 7
DP  - 1999 Jul
TI  - Troyer syndrome: a combination of central brain abnormality and motor neuron
      disease?
PG  - 556-61
AB  - 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.
FAU - Auer-Grumbach, M
AU  - Auer-Grumbach M
AD  - Department of Neurology, Karl-Franzens University Graz, Austria.
FAU - Fazekas, F
AU  - Fazekas F
FAU - Radner, H
AU  - Radner H
FAU - Irmler, A
AU  - Irmler A
FAU - Strasser-Fuchs, S
AU  - Strasser-Fuchs S
FAU - Hartung, H P
AU  - Hartung HP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - J Neurol
JT  - Journal of neurology
JID - 0423161
SB  - IM
MH  - Adult
MH  - *Agenesis of Corpus Callosum
MH  - Biopsy
MH  - Corpus Callosum/pathology
MH  - Female
MH  - Hand
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Motor Neuron Disease/*genetics/physiopathology
MH  - Muscle, Skeletal/*pathology
MH  - Neural Conduction
MH  - Pedigree
MH  - Spastic Paraplegia, Hereditary/*genetics/physiopathology
MH  - Syndrome
EDAT- 1999/08/27 00:00
MHDA- 1999/08/27 00:01
CRDT- 1999/08/27 00:00
PHST- 1999/08/27 00:00 [pubmed]
PHST- 1999/08/27 00:01 [medline]
PHST- 1999/08/27 00:00 [entrez]
AID - 10.1007/s004150050403 [doi]
PST - ppublish
SO  - J Neurol. 1999 Jul;246(7):556-61. doi: 10.1007/s004150050403.