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Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families.
Clin Neurol Neurosurg 2019; 184:105427CN

Abstract

OBJECTIVES

To describe and correlate the genotype and phenotype of patients diagnosed with SCAs in southern of Brazil.

PATIENTS AND METHODS

Data were collected from the records of our ataxia outpatient clinic. We included 460 patients from 213 families, who were divided into four groups: SCA3, SCA10, Other SCAs and Undetermined.

RESULTS

The most frequent type was SCA3 (45.7%), followed by SCA10 (18.3%), SCA2 (6.5%), SCA1 (4.3%), SCA7 (1.8%), and SCA6 (0.65%). The Undetermined group represented 22.8% of all patients. We observed a high frequency of SCA10 when compared to data from other studies, which can be explained by a founder effect in our region. Statistically significant differences were found for several symptoms when comparing SCA groups, especially lid retraction (p < 0.001), ophthalmoplegia (p < 0.001), visual loss (p < 0.001) and slow saccades (p < 0.001) which may help clinically differentiate SCAs and allow neurologists to request the right confirmatory genetic test and define prognosis. Also, the prevalence of epilepsy in SCA10 patients was lower than usual (4.8%), suggesting a genetic variation of the disease.

CONCLUSION

Although SCA3 remains the most common, we observed a high frequency of SCA10 in our region. In addition, some symptoms and signs might help differentiate the SCAs.

Authors+Show Affiliations

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil; Department of Neurology, Baylor College of Medicine, Houston, USA. Electronic address: nascimento.fabio.a@gmail.com.Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil. Electronic address: viniciusoliveirarr@gmail.com.Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil. Electronic address: fercaspell@gmail.com.Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil; Neurological Diseases Group, Graduate Program in Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil. Electronic address: chcamargo@uol.com.br.Department of Medicine, Pequeno Príncipe College, Curitiba, Brazil. Electronic address: moro_adriana@yahoo.com.br.Genetics Department, Positivo University, Curitiba, Brazil; Genetika - Centro de Aconselhamento e Laboratório de Genética, Curitiba, Brazil. Electronic address: genetika@genetika.com.br.Neuroscience Research Program, Methodist Hospital Research Institute, Houston, USA. Electronic address: tashizawa@houstonmethodist.or.Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil; Neurological Diseases Group, Graduate Program in Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil. Electronic address: hagteive@mps.com.br.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31323545

Citation

Nascimento, Fábio A., et al. "Spinocerebellar Ataxias in Southern Brazil: Genotypic and Phenotypic Evaluation of 213 Families." Clinical Neurology and Neurosurgery, vol. 184, 2019, p. 105427.
Nascimento FA, Rodrigues VOR, Pelloso FC, et al. Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. Clin Neurol Neurosurg. 2019;184:105427.
Nascimento, F. A., Rodrigues, V. O. R., Pelloso, F. C., Camargo, C. H. F., Moro, A., Raskin, S., ... Teive, H. A. G. (2019). Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. Clinical Neurology and Neurosurgery, 184, p. 105427. doi:10.1016/j.clineuro.2019.105427.
Nascimento FA, et al. Spinocerebellar Ataxias in Southern Brazil: Genotypic and Phenotypic Evaluation of 213 Families. Clin Neurol Neurosurg. 2019;184:105427. PubMed PMID: 31323545.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. AU - Nascimento,Fábio A, AU - Rodrigues,Vinícius O R, AU - Pelloso,Fernando C, AU - Camargo,Carlos Henrique Ferreira, AU - Moro,Adriana, AU - Raskin,Salmo, AU - Ashizawa,Tetsuo, AU - Teive,Hélio Afonso Ghizoni, Y1 - 2019/07/10/ PY - 2018/10/03/received PY - 2019/07/06/revised PY - 2019/07/08/accepted PY - 2019/7/20/pubmed PY - 2019/7/20/medline PY - 2019/7/20/entrez KW - Autosomal dominant cerebellar ataxia KW - Machado-Joseph disease KW - SCA10 KW - SCA3 KW - Spinocerebellar ataxias SP - 105427 EP - 105427 JF - Clinical neurology and neurosurgery JO - Clin Neurol Neurosurg VL - 184 N2 - OBJECTIVES: To describe and correlate the genotype and phenotype of patients diagnosed with SCAs in southern of Brazil. PATIENTS AND METHODS: Data were collected from the records of our ataxia outpatient clinic. We included 460 patients from 213 families, who were divided into four groups: SCA3, SCA10, Other SCAs and Undetermined. RESULTS: The most frequent type was SCA3 (45.7%), followed by SCA10 (18.3%), SCA2 (6.5%), SCA1 (4.3%), SCA7 (1.8%), and SCA6 (0.65%). The Undetermined group represented 22.8% of all patients. We observed a high frequency of SCA10 when compared to data from other studies, which can be explained by a founder effect in our region. Statistically significant differences were found for several symptoms when comparing SCA groups, especially lid retraction (p < 0.001), ophthalmoplegia (p < 0.001), visual loss (p < 0.001) and slow saccades (p < 0.001) which may help clinically differentiate SCAs and allow neurologists to request the right confirmatory genetic test and define prognosis. Also, the prevalence of epilepsy in SCA10 patients was lower than usual (4.8%), suggesting a genetic variation of the disease. CONCLUSION: Although SCA3 remains the most common, we observed a high frequency of SCA10 in our region. In addition, some symptoms and signs might help differentiate the SCAs. SN - 1872-6968 UR - https://www.unboundmedicine.com/medline/citation/31323545/Spinocerebellar_ataxias_in_Southern_Brazil:_Genotypic_and_phenotypic_evaluation_of_213_families L2 - https://linkinghub.elsevier.com/retrieve/pii/S0303-8467(19)30223-9 DB - PRIME DP - Unbound Medicine ER -