TY - JOUR
T1 - Autosomal dominant striatonigral degeneration
T2 - A ctinical, pathologic, and biochemical study of a new genetic disorder
AU - Rosenberg, R. N.
AU - Nyhan, W. L.
AU - Bay, C.
AU - Shore, P.
PY - 1976/8
Y1 - 1976/8
N2 - An autosomal dominant striatonigral degeneration is present in a family of Portuguese ancestry numbering in excess of 329 persons in eight generations. The illness begins in the second, third, or fourth decade, and progresses for about 15 years with parkinsonian rigidity, spasticity, spastic dysarthria, and abnormalities of eye movement. Neuropathologic findings are severe neuronal loss and astrocytic gliosis in the corpus striatum and substantia nigra, with a moderate neuronal loss in the dentate nucleus of the cerebellum and nucleus ruber of the midbrain. This is a new genetic entity, distinct from other autosomal dominant neurologic disorders such as nigrospinodentatal degeneration, olivopontocerebellar degeneration, dystonia musculorum deformans, Machado’s disease, and Huntington’s disease.
AB - An autosomal dominant striatonigral degeneration is present in a family of Portuguese ancestry numbering in excess of 329 persons in eight generations. The illness begins in the second, third, or fourth decade, and progresses for about 15 years with parkinsonian rigidity, spasticity, spastic dysarthria, and abnormalities of eye movement. Neuropathologic findings are severe neuronal loss and astrocytic gliosis in the corpus striatum and substantia nigra, with a moderate neuronal loss in the dentate nucleus of the cerebellum and nucleus ruber of the midbrain. This is a new genetic entity, distinct from other autosomal dominant neurologic disorders such as nigrospinodentatal degeneration, olivopontocerebellar degeneration, dystonia musculorum deformans, Machado’s disease, and Huntington’s disease.
UR - http://www.scopus.com/inward/record.url?scp=0017117382&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0017117382&partnerID=8YFLogxK
U2 - 10.1212/wnl.26.8.703
DO - 10.1212/wnl.26.8.703
M3 - Article
C2 - 945867
AN - SCOPUS:0017117382
SN - 0028-3878
VL - 26
SP - 703
EP - 714
JO - Neurology
JF - Neurology
IS - 8
ER -