Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16
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Mutations in STUB1, on chromosome 16p13.3, have been associated with autosomal recessive spinocerebellar ataxia type 16 (SCAR16)  and found to cause ataxia and hypogonadism.
A 68-year-old woman experienced menarche at 12; afterwards, she had regular menses, gave birth to a girl, and had menopause at 47. At 54 years of age, progressively scarce spontaneous language, apathy and infantile behaviour developed, together with difficulty to perform calculations and domestic tasks. Four years later, unsteady gait developed and 6 years after, generalized involuntary movements appeared.
On examination, choreic movements affected the face, neck, trunk and extremities. Gait was wide-based and dysmetria was observed in the limbs. Horizontal nystagmus was present on lateral gaze and ocular pursuit was abnormal. An explosive dysarthria was noted.
Serial neuropsychological testing performed on four occasions over the last 9 years, using the Wisconsin Card Sorting Test, Boston Naming Test, Trail...
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Conflicts of interest
The authors declare that they have no conflict of interest.
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