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Autosomal dominant cerebellar ataxia (ADCA) includes heterogeneous neurodegenerative diseases with or without various neurological signs and symptoms. Ishikawa et al reported a new type of ADCA, named chromosome16q22.1 linked ADCA (16q-ADCA), attributed to a heterozygous C→T substitution in the 5′ non-coding region of puratrophin-1 gene.1 We searched for this mutation in168 patients from 129 families with ADCA and found it in six patients. The patients generally showed late onset pure cerebellar ataxia similar to previous reports1,2 but two had mild axonal neuropathy and orthostatic hypotension (OH). Our results suggest that 16q-ADCA shows a broader clinical presentation than previously thought.
Patient No 1
An 81-year-old Japanese woman had dysarthria at 52 years of age, unsteady gait at 56 years, limb ataxia at 76 years and severe truncal ataxia, requiring a wheelchair. Her family history included progressive ataxia in her older sister, younger brother and son. She had cervical spondylosis at the C3–C7 level. Ocular movement was almost normal. The score on the International Cooperating Ataxia Rating Scale3 (ICARS) was 66/100. Deep tendon reflexes (DTRs) were increased, with extensor plantar reflexes. Sensation of pain was almost normal, while vibratory sensation was moderately disturbed in the lower limbs. Passive head up tilt testing (HUT) performed at 60° for 30 min revealed OH, with …