Brain and Brainstem ...............................................................................................................S111 Multiple Sclerosis ...............................................................................................................S111 Other Diseases of Myelin ..................................................................................................S11...

We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...

Calabi--Yau manifolds have risen to prominence in algebraic geometry, part because of mirror symmetry and enumerative geometry. After Bershadsky--Cecotti--Ooguri--Vafa (BCOV), it is expected that genus 1 curve counting on a manifold related conjectured invariant, only depending the complex structure mirror, built from Ray--Singer holomorphic analytic torsions. To this end, extending work Fang--...

Autosomal dominant spinocerebellar ataxias are neurodegenerative disorders that generally present in adulthood. Due to extreme expansion of the repeat size during spermatogenesis, they can also be observed in childhood. The diagnosis in childhood is very difficult in the absence of family history. Here we describe an 8-year-old girl with spinocerebellar ataxia type 2 who presented with progress...

The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenoty...

UNLABELLED Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders. METHOD Fifteen patients with different forms of movement disorders (Parkinson's disease, Huntington's disease, Tourette's syndrome, spinocerebellar ataxia type 3), were evaluated in the Movement Diso...