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Infantile cerebellar atrophy
Author(s) -
Furman J. M.,
Baloh R. W.,
Chugani H.,
Waluch V.,
Bradley W. G.
Publication year - 1985
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410170417
Subject(s) - atrophy , cerebellar vermis , cerebellar ataxia , cerebellum , nystagmus , magnetic resonance imaging , ataxia , medicine , pathology , neuroscience , psychology , audiology , radiology
Abstract We descrine a family whose menbers have a dominantly inherited, early‐onset, nonprogressive syndrome that includes spontaneous upbeating nystagmus and mild gait ataxia. Magnetic resonance imaging showed localized atrophy of cerebellar cermis. Several families described in the literature resemble our family but differ in mode of inheritance, age at onset, rate of progression or clinical findings. We believe this family represents a unique type of inherited early‐onste atrophy of the cerebellar vermis.