Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
β Scribed by K. Freeman; A. Gregory; A. Turner; P. Blasco; P. Hogarth; S. Hayflick
- Book ID
- 114740923
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 95 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0964-2633
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## Abstract Adultβonset focal dystonia was the presenting sign of pantothenate kinaseβassociated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral pr
## Abstract A 43βyearβold male patient suddenly developed freezing of gait (FOG) when making a first step, turning, or passing through a narrow path. Dystonic plantar flexion of his left foot always accompanied with FOG. He could walk without FOG when stepping on visual cues. Brain magnetic resonan