Repeat sizes of NOP56 gene in a Japanese Asidan (SCA36) family with clinical anticipation

We appreciate the criticism raised by Dr. Matsuura questioning the genetic evaluation for NOP56 gene of Asidan (spinocerebellar ataxia 36) showing clinical anticipation. Asidan is an autosomal dominant neurodegenerative disorder caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene, showing cerebellar ataxia, motor neuron disease phenotype, hearing loss and frontal cognitive impairment [1–3]. The NOP56 genetic mutation in Asidan is similar to the hexanucleotide GGGGCC repeat expansion in intron 1 of the C9orf72 gene observed in familial amyotrophic lateral sclerosis/frontotemporal dementia accompanied by Purkinje cell degeneration [4,5], suggesting the similar genetic and molecular mechanism between NOP56 and C9orf72 gene mutations [5].

from Journal of the Neurological Sciences https://ift.tt/3mAlcfH