Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2000 1
2001 1
2005 1
2015 2
2018 1
2020 1
2021 1
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Spinocerebellar ataxia, autosomal recessive 22"
Page 1
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.
Di Donato S, Gellera C, Mariotti C. Di Donato S, et al. Neurol Sci. 2001 Jun;22(3):219-28. doi: 10.1007/s100720100017. Neurol Sci. 2001. PMID: 11731874 Review.
Autosomal recessive ataxias are a heterogeneous group of rare neurodegenerative diseases characterized by early onset cerebellar ataxia associated with various neurologic, ophthalmologic and systemic signs. In comparison with autosomal dominant …
Autosomal recessive ataxias are a heterogeneous group of rare neurodegenerative diseases characterized by early onset c …
Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
Chen J, Zhao Z, Shen H, Bing Q, Li N, Guo X, Hu J. Chen J, et al. BMC Neurol. 2022 May 16;22(1):180. doi: 10.1186/s12883-022-02708-z. BMC Neurol. 2022. PMID: 35578252 Free PMC article.
Patients in the HSP group had chronic courses, most of whom were lower limbs spasticity, mainly with axonal neuropathy, and thinning corpus callosum, white matter lesions and cerebellar atrophy in brain MRI. ...Patients with homocysteine remethylation disorders or Krabbe's …
Patients in the HSP group had chronic courses, most of whom were lower limbs spasticity, mainly with axonal neuropathy, and thinning …
Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations.
Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Toda T, Tsuji S. Naruse H, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):576-578. doi: 10.1080/21678421.2020.1813312. Epub 2020 Sep 1. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 32870032
Mutations in SYNE1 have been originally described to cause a slowly progressive, pure cerebellar ataxia (spinocerebellar ataxia, autosomal-recessive 8; SCAR8). Notably, recent studies revealed that affected patients with SYNE1-associated atax …
Mutations in SYNE1 have been originally described to cause a slowly progressive, pure cerebellar ataxia (spinocerebellar at …
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
De Braekeleer M, Giasson F, Mathieu J, Roy M, Bouchard JP, Morgan K. De Braekeleer M, et al. Genet Epidemiol. 1993;10(1):17-25. doi: 10.1002/gepi.1370100103. Genet Epidemiol. 1993. PMID: 8472930
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay-Lac-St-Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. ...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a disorder that has an elevated frequency in Sagu …
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB. Reetz K, et al. Lancet Neurol. 2015 Feb;14(2):174-82. doi: 10.1016/S1474-4422(14)70321-7. Epub 2015 Jan 5. Lancet Neurol. 2015. PMID: 25566998 Clinical Trial.
BACKGROUND: Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia …
BACKGROUND: Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectiona …
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.
Valduga M, Philippe C, Lambert L, Bach-Segura P, Schmitt E, Masutti JP, François B, Pinaud P, Vibert M, Jonveaux P. Valduga M, et al. J Hum Genet. 2015 May;60(5):267-71. doi: 10.1038/jhg.2015.17. Epub 2015 Feb 26. J Hum Genet. 2015. PMID: 25716914
WWOX has been recently implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy (EOEE). ...
WWOX has been recently implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe earl …
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T, Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J, Tsuji S. Kurihara M, et al. Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4. Cerebellum. 2018. PMID: 28895081
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. ...Although autosomal recessive diseases are more common in patients with early onset sporadic cerebellar ataxia …
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 fa …
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
Durand CM, Angelini C, Michaud V, Delleci C, Coupry I, Goizet C, Trimouille A. Durand CM, et al. BMC Neurol. 2022 Feb 12;22(1):53. doi: 10.1186/s12883-022-02553-0. BMC Neurol. 2022. PMID: 35151251 Free PMC article.
Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological phenotypes, with an autosomic recessive inheritance. The objectives of the study were to determine the genetic etiology of a patient with early onset spora …
Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological phenotypes, with an autoso …
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.
Olsen JH, Hahnemann JM, Børresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarström L, Robsahm TE, Kääriäinen H, Bregård A, Brøndum-Nielsen K, Yuen J, Tucker M. Olsen JH, et al. Br J Cancer. 2005 Jul 25;93(2):260-5. doi: 10.1038/sj.bjc.6602658. Br J Cancer. 2005. PMID: 15942625 Free PMC article.
Epidemiological studies have consistently shown elevated rates of breast cancer among female blood relatives of patients with ataxia telangiectasia (AT), a rare autosomal recessive disease. A large proportion of the members of AT families are carriers of AT-c …
Epidemiological studies have consistently shown elevated rates of breast cancer among female blood relatives of patients with ataxia …
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. Engert JC, et al. Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769. Nat Genet. 2000. PMID: 10655055
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region of Quebec. ...The putative protein co …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease …