TY - JOUR
T1 - Magnetic resonance imaging in the diagnosis of dominantly inherited cerebello-olivary atrophy
T2 - A clinicopathologic study
AU - Bonni, A.
AU - Del Carpio-O'Donovan, R.
AU - Robitaille, Y.
AU - Andermann, E.
AU - Andermann, F.
AU - Arnold, D. A.
PY - 1993
Y1 - 1993
N2 - To facilitate the study of cerebellar degenerative disorders, improved clinical diagnosis is needed. Cerebello-olivary atrophy is pathologically distinct, but until now its diagnosis has been thought to require postmortem examination. This condition was considered as a possible diagnosis in two patients from different families with dominantly inherited ataxia. The affected members of each family demonstrated a stereotyped, progressive, 'pure' cerebellar syndrome, which began with gait ataxia followed years later by dysarthria and limb ataxia. The autopsy findings for the first patient's father revealed paleocerebellar and olivary atrophy, characteristic of cerebello-olivary atrophy. Magnetic resonance imaging (MRI) of the brain of both patients revealed medullary, vermian and, to a lesser extent, cerebellar hemispheric atrophy but a normal pons. Dominantly inherited cerebello-olivary atrophy was diagnosed in both patients. Characteristic clinical and MRI features thus permit a confident clinical diagnosis of dominantly inherited cerebello-olivary atrophy. Recognition of this entity during life should advance the classification of cerebellar degenerative disorders.
AB - To facilitate the study of cerebellar degenerative disorders, improved clinical diagnosis is needed. Cerebello-olivary atrophy is pathologically distinct, but until now its diagnosis has been thought to require postmortem examination. This condition was considered as a possible diagnosis in two patients from different families with dominantly inherited ataxia. The affected members of each family demonstrated a stereotyped, progressive, 'pure' cerebellar syndrome, which began with gait ataxia followed years later by dysarthria and limb ataxia. The autopsy findings for the first patient's father revealed paleocerebellar and olivary atrophy, characteristic of cerebello-olivary atrophy. Magnetic resonance imaging (MRI) of the brain of both patients revealed medullary, vermian and, to a lesser extent, cerebellar hemispheric atrophy but a normal pons. Dominantly inherited cerebello-olivary atrophy was diagnosed in both patients. Characteristic clinical and MRI features thus permit a confident clinical diagnosis of dominantly inherited cerebello-olivary atrophy. Recognition of this entity during life should advance the classification of cerebellar degenerative disorders.
KW - cerebellar degeneration
KW - cerebello-olivary atrophy
KW - familial progressive ataxia
KW - inherited ataxia
KW - magnetic resonance imaging of the brain
UR - http://www.scopus.com/inward/record.url?scp=0027279099&partnerID=8YFLogxK
M3 - Article
C2 - 8504332
AN - SCOPUS:0027279099
SN - 0008-2902
VL - 44
SP - 194
EP - 198
JO - Canadian Association of Radiologists Journal
JF - Canadian Association of Radiologists Journal
IS - 3
ER -