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A 76‐year‐old woman presenting with adult‐onset, slowly progressive cerebellar symptoms
Author(s) -
Takahashi Hitoshi,
Hayashi Shintaro,
Sato Toshiya
Publication year - 2002
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1046/j.1440-1789.2002.00468.x
Subject(s) - cerebellum , medicine , ataxic gait , cerebellar vermis , ataxia , cerebellar ataxia , gait ataxia , atrophy , anatomy , deep cerebellar nuclei , cerebellar hemisphere , cerebellar cortex , pathology , psychiatry
CLINICAL HISTORY A female patient, healthy until the age of 56 years, devel- oped unsteady gait and slurred speech. Horizontal gaze- evoked nystagmus was also present and all deep tendon reflexes were slightly hyperactive. Computed tomography revealed atrophy of the cerebellar vermis and hemi- spheres. There was a family history of the disease, the patient's father and three siblings, uncle and three first cousins having been affected by an almost identical dis- order; the disease is apparently inherited as an autosomal dominant trait. Subsequently, there was an insidious pro- gression of the gait ataxia and dysarthria. At the age of 63 years, the patient was unable to walk without assistance and virtually chair bound and at the age of 76, she died of aspiration pneumonia, approximately 19 years after onset of the disease. During the course of her illness, pollaki- suria, pyramidal signs (Babinski's sign was present on both sides), and muscle weakness of the neck and upper limbs were noticed. Since the age of 73, she was sometimes incoherent and suffered delusions, but there was no obvi- ous evidence of dementia.