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Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.
Int J Mol Sci
August 2021
Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a multisystem hereditary ataxia associated with mutations in , which encodes sacsin, a protein of still only partially understood function. Although mouse models of ARSACS mimic largely the disease progression seen in humans, their use in the validation of effective therapies has not yet been proposed. Recently, the teleost has attracted increasing attention as a vertebrate model that allows rapid and economical screening, of candidate molecules, and thus combines the advantages of whole-organism phenotypic assays and in vitro high-throughput screening assays.
View Article and Find Full Text PDFNovel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.
Neurol India
June 2021
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Sacsinopathies: sacsin-related ataxia.
Cerebellum
December 2012
Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was originally found among inhabitants of the Charlevoix-Saguenay region of northeastern Quebec in Canada. This disease is a neurodegenerative disorder characterized by early-onset spastic ataxia, dysarthria, nystagmus, distal muscle wasting, finger and foot deformities, and retinal hypermyelination. The principal neuropathology comprises atrophy of the upper vermis and the loss of Purkinje cells in the cerebellum.
View Article and Find Full Text PDFNovel SACS mutation in a Belgian family with sacsin-related ataxia.
J Neurol Sci
January 2008
Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan.
The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.
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