BIOMAT Database Logo BIOMAT Database Logo

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan. 2022

Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
Department of Neurology, National Hospital Organization Niigata National Hospital, Japan.

Autosomal recessive spinocerebellar ataxia of type 10 (SCAR10) is a very rare neurodegenerative disease caused by mutations in the TMEM16K (ANO10) gene. This disorder is characterized by slowly progressive cerebellar ataxia and pyramidal signs inconstantly associated with cognitive decline, polyneuropathy, epilepsy, and vesicorectal dysfunction. To date, more than 40 cases have been reported in Europe. In contrast, only three cases have been identified in Asian countries. We herein report the third Japanese case of SCAR10 harboring a novel homozygous deletion mutation (c.616delG, p.Glu206Lysfs*17). This case presented with adult-onset slowly progressive spastic ataxia with cerebellar atrophy and mild cognitive decline.

UI MeSH Term Description Entries
D007564 Japan A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo. Bonin Islands
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009896 Optic Atrophy Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition. Atrophy, Optic
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D017384 Sequence Deletion Deletion of sequences of nucleic acids from the genetic material of an individual. Deletion Mutation,Deletion Mutations,Deletion, Sequence,Deletions, Sequence,Mutation, Deletion,Mutations, Deletion,Sequence Deletions
D020754 Spinocerebellar Ataxias A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43) Spinocerebellar Ataxia Type 1,Spinocerebellar Ataxia Type 2,Spinocerebellar Ataxia Type 4,Spinocerebellar Ataxia Type 5,Spinocerebellar Ataxia Type 6,Spinocerebellar Ataxia Type 7,Spinocerebellar Atrophies,Autosomal Dominant Cerebellar Ataxia, Type II,Cerebellar Degeneration with Slow Eye Movements,Cerebelloparenchymal Disorder I,Dominantly-Inherited Spinocerebellar Ataxias,Menzel Type OPCA,OPCA with Macular Degeneration and External Ophthalmoplegia,OPCA with Retinal Degeneration,Olivopontocerebellar Atrophy 2,Olivopontocerebellar Atrophy I,Olivopontocerebellar Atrophy II,Olivopontocerebellar Atrophy III,Olivopontocerebellar Atrophy IV,Olivopontocerebellar Atrophy, Holguin Type,SCA1,Schut-Haymaker Type OPCA,Spinocerebellar Ataxia 1,Spinocerebellar Ataxia 2,Spinocerebellar Ataxia 4,Spinocerebellar Ataxia 5,Spinocerebellar Ataxia 6,Spinocerebellar Ataxia 7,Spinocerebellar Ataxia with Slow Eye Movements,Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy,Spinocerebellar Ataxia, Cuban Type,Spinocerebellar Ataxia-1,Spinocerebellar Ataxia-2,Spinocerebellar Ataxia-4,Spinocerebellar Ataxia-5,Spinocerebellar Ataxia-6,Spinocerebellar Ataxia-7,Spinocerebellar Ataxias, Dominantly-Inherited,Spinocerebellar Atrophy 2,Spinocerebellar Atrophy I,Spinocerebellar Atrophy II,Spinocerebellar Degeneration with Slow Eye Movements,Type 1 Spinocerebellar Ataxia,Type 2 Spinocerebellar Ataxia,Type 4 Spinocerebellar Ataxia,Type 5 Spinocerebellar Ataxia,Type 6 Spinocerebellar Ataxia,Type 7 Spinocerebellar Ataxia,Wadia Swami Syndrome,Wadia-Swami Syndrome,Ataxia 1, Spinocerebellar,Ataxia 2, Spinocerebellar,Ataxia 4, Spinocerebellar,Ataxia 5, Spinocerebellar,Ataxia 6, Spinocerebellar,Ataxia 7, Spinocerebellar,Ataxia, Dominantly-Inherited Spinocerebellar,Ataxia, Spinocerebellar,Ataxias, Dominantly-Inherited Spinocerebellar,Ataxias, Spinocerebellar,Atrophies, Spinocerebellar,Atrophy 2, Olivopontocerebellar,Atrophy 2, Spinocerebellar,Atrophy 2s, Olivopontocerebellar,Atrophy 2s, Spinocerebellar,Atrophy I, Olivopontocerebellar,Atrophy I, Spinocerebellar,Atrophy II, Olivopontocerebellar,Atrophy III, Olivopontocerebellar,Atrophy IIs, Spinocerebellar,Atrophy IV, Olivopontocerebellar,Atrophy IVs, Olivopontocerebellar,Atrophy, Spinocerebellar,Cerebelloparenchymal Disorder Is,Dominantly Inherited Spinocerebellar Ataxias,Dominantly-Inherited Spinocerebellar Ataxia,OPCA, Menzel Type,OPCA, Schut-Haymaker Type,Olivopontocerebellar Atrophy 2s,Olivopontocerebellar Atrophy IIIs,Olivopontocerebellar Atrophy IIs,Olivopontocerebellar Atrophy IVs,Olivopontocerebellar Atrophy Is,SCA1s,Schut Haymaker Type OPCA,Spinocerebellar Ataxia,Spinocerebellar Ataxia 1s,Spinocerebellar Ataxia 2s,Spinocerebellar Ataxia 4s,Spinocerebellar Ataxia 5s,Spinocerebellar Ataxia 6s,Spinocerebellar Ataxia 7s,Spinocerebellar Ataxia, Dominantly-Inherited,Spinocerebellar Ataxias, Dominantly Inherited,Spinocerebellar Atrophy,Spinocerebellar Atrophy 2s,Spinocerebellar Atrophy IIs,Spinocerebellar Atrophy Is,Swami Syndrome, Wadia,Syndrome, Wadia Swami,Syndrome, Wadia-Swami

Related Publications

Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report.
January 2022, World journal of clinical cases,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10).
March 2022, BMJ case reports,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report.
June 2023, Neurology. Genetics,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.
May 2024, International journal of molecular sciences,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.
February 2017, European journal of medical genetics,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
Autosomal recessive spinocerebellar ataxias in Japan.
June 2016, Rinsho shinkeigaku = Clinical neurology,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report.
September 2023, World journal of clinical cases,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.
January 2023, Frontiers in genetics,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.
September 2020, European journal of medical genetics,
Izumi Aida, and Tetsuo Ozawa, and Kentaro Ohta, and Hidehiko Fujinaka, and Kiyoe Goto, and Takashi Nakajima
A Rare Case of Spinocerebellar Ataxia Autosomal Recessive 21 Presented with Liver Disease.
January 2023, Advanced biomedical research,
Copied contents to your clipboard!