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The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia t …
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A. Amirifar P, et al. Expert Rev Clin Immunol. 2020 Sep;16(9):859-871. doi: 10.1080/1744666X.2020.1810570. Epub 2020 Oct 15. Expert Rev Clin Immunol. 2020. PMID: 32791865 Review.
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, and cancer predisposition. Mutations cause A-T …
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebella …
Spinocerebellar ataxia type 48: last but not least.
De Michele G, Galatolo D, Barghigiani M, Dello Iacovo D, Trovato R, Tessa A, Salvatore E, Filla A, De Michele G, Santorelli FM. De Michele G, et al. Neurol Sci. 2020 Sep;41(9):2423-2432. doi: 10.1007/s10072-020-04408-3. Epub 2020 Apr 27. Neurol Sci. 2020. PMID: 32342324 Review.
INTRODUCTION: Biallelic mutations in STUB1, which encodes the E3 ubiquitin ligase CHIP, were originally described in association with SCAR16, a rare autosomal recessive spinocerebellar ataxia, so far reported in 16 kindreds. In the last 2 years, …
INTRODUCTION: Biallelic mutations in STUB1, which encodes the E3 ubiquitin ligase CHIP, were originally described in association with SCAR16 …
[Hereditary ataxias].
Tallaksen CM. Tallaksen CM. Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1977-80. Tidsskr Nor Laegeforen. 2008. PMID: 18787576 Free article. Review. Norwegian.
RESULTS: Autosomal dominant cerebellar ataxias constitute the largest group and includes spinocerebellar ataxias (SCA 1-29), dentatorubral-pallidolyisian atrophy (DRPLA) and episodic ataxias (EA 1-6). Diagnosis is based on family history, clinic …
RESULTS: Autosomal dominant cerebellar ataxias constitute the largest group and includes spinocerebellar ataxias …
Coenzyme Q and mitochondrial disease.
Quinzii CM, Hirano M. Quinzii CM, et al. Dev Disabil Res Rev. 2010;16(2):183-8. doi: 10.1002/ddrr.108. Dev Disabil Res Rev. 2010. PMID: 20818733 Free PMC article. Review.
Deficiency of CoQ(10) is a clinically and molecularly heterogeneous syndrome, which, to date, has been found to be autosomal recessive in inheritance and generally responsive to CoQ(10) supplementation. CoQ(10) deficiency has been associated with five major clinical …
Deficiency of CoQ(10) is a clinically and molecularly heterogeneous syndrome, which, to date, has been found to be autosomal reces …
Cerebellar ataxias: beta-III spectrin's interactions suggest common pathogenic pathways.
Perkins E, Suminaite D, Jackson M. Perkins E, et al. J Physiol. 2016 Aug 15;594(16):4661-76. doi: 10.1113/JP271195. Epub 2016 Apr 24. J Physiol. 2016. PMID: 26821241 Free PMC article. Review.
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders all characterised by postural abnormalities, motor deficits and cerebellar degeneration. ...Heterozygous mutations in the gene encoding beta-III spectrin (SPTBN2) underlie SCA type-5 w …
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders all characterised by postural abnormalities, …
Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players.
Rahman N, Scott RH. Rahman N, et al. Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R60-6. doi: 10.1093/hmg/ddm026. Hum Mol Genet. 2007. PMID: 17613548 Review.
Autosomal dominant cancer predisposition genes for common cancers such as breast cancer and colorectal cancer have been well recognized for over a decade. ...Conversely, it has also become evident that some genes which cause autosomal recessive cancer predisp …
Autosomal dominant cancer predisposition genes for common cancers such as breast cancer and colorectal cancer have been well recogniz …
Cytoplasmic ATM protein kinase: an emerging therapeutic target for diabetes, cancer and neuronal degeneration.
Yang DQ, Halaby MJ, Li Y, Hibma JC, Burn P. Yang DQ, et al. Drug Discov Today. 2011 Apr;16(7-8):332-8. doi: 10.1016/j.drudis.2011.02.001. Epub 2011 Feb 15. Drug Discov Today. 2011. PMID: 21315178 Review.
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia and oculocutaneous telangiectasias. ...
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia and oculocutan …
[An autopsy case of hereditary cerebellar atrophy (Holmes-type) with mental symptoms and rhythmic skeletal myoclonus].
Ohta S, Mizutani Y, Anno M. Ohta S, et al. No To Shinkei. 1994 Jul;46(7):663-70. No To Shinkei. 1994. PMID: 7946622 Review. Japanese.
We report on the clinicopathological findings in autosomal recessive hereditary cortical cerebellar atrophy of the Holmes type (H-CCA). ...The patient's initial symptom was a motor disturbance in the upper extremities at the age of 16. This was followed by ch …
We report on the clinicopathological findings in autosomal recessive hereditary cortical cerebellar atrophy of the Holmes type …