Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families

Nascimento, Fábio A.; Rodrigues, Vinícius O. R.; Pelloso, Fernando Castilho; Camargo, Carlos Henrique Ferreira; Moro, Adriana; Raskin, Salmo; Ashizawa, Tetsuo; Teive, Hélio Afonso Ghizoni

doi:10.1016/j.clineuro.2019.105427

Cited by 17 publications

(15 citation statements)

References 34 publications

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“…The sample included subjects aged 18 years or older, irrespective of gender, with a genetically confirmed diagnosis of SCA3 or SCA2, or neurological signs characteristic of ataxia in a family member of a positively tested patient. The choice of SCA3 and SCA2 was based on the fact that these are two of the three most frequent types of SCA in southern Brazil 10 . Moreover, even though the phenotypes of these disorders do not necessarily overlap, they present with similar arrays and severity of motor and nonmotor signs, in addition to having similar ataxia severity progression rates (1.49 and 1.52 for SCA2; 1.56 and 1.60 for SCA3), as described in previous studies 1 , 6 .…”

Section: Methodsmentioning

confidence: 99%

Functionality and disease severity in spinocerebellar ataxias

Cruz

Zonta

Munhoz

et al. 2022

Arq. Neuro-Psiquiatr.

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Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression. There is no established link between formal clinical markers for severity and functional/balance scores that could guide rehabilitation teams. Objective: To evaluate the relationship between functional scales and ataxia severity in order to identify cutoff landmarks for functional loss and estimate the mean SARA (Scale for Assessment and Rating of Ataxia) score for the risk ratings for falls on the BBS (Berg Balance Scale). Methods: Consecutive patients with a molecular diagnosis of SCA (total 89: 31 with SCA2 and 58 with SCA3) were assessed for functionality FIM-ADL (Functional Independence Measure-activities of daily living and Lawton-IADL (instrumental activities of daily living), balance (BBS) and disease severity (SARA). Results: The main disability cutoff landmarks were that the need for supervision for FIM-ADL starts with 12 points on SARA and the need for supervision for Lawton-IADL starts with 14 points on SARA. The first items to require assistance were “expression” and “shopping”, respectively. At 20 points on SARA, patients were dependent on all FIM and Lawton items. The item with the greatest impact on distinguishing dependents from independents was “means of transport” in Lawton-IADL and the domain “locomotion” in FIM-ADL. The mean SARA score for patients classified as low risk in the BBS was 9.9 points, and it was 17.4 for medium risk and 25.2 for high risk. Conclusions: Analysis on the correlation between the severity of ataxia and functional scales can form an important guide for understanding the progression of functional dependence among individuals with SCAs.

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Section: Methodsmentioning

confidence: 99%

Functionality and disease severity in spinocerebellar ataxias

Cruz

Zonta

Munhoz

et al. 2022

Arq. Neuro-Psiquiatr.

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“…However, epidemiological studies from the north of the country are scarce, and further studies are needed to assess the prevalence of hereditary ataxias in other regions of the country. Table 4 shows the frequencies of SCA in the Brazilian territory 21,22,23,25,26,27,28,29,30,31 . Source: adapted from Sullivan et al 6 ADCA: autossomal dominant cerebellar ataxia; SCA: spinocerebellar ataxia; DRPLA: dentatorubral-pallidoluysian atrophy; DNMT1: DNA methyltransferase.…”

Section: Epidemiological Contextmentioning

confidence: 99%

“…The diagnostic investigation of patients with ADCA involves PCR (polymerase chain reaction) technique, and is based on in-vitro amplification of specific regions of the DNA, allowing the detection of nucleotide expansions, which are the substrate for the most common ADCA worldwide 9,10,14,22,25 . Approximately 30% of the patients investigated for ADCA by the conventional method (PCR) have negative results.…”

Section: Molecular Diagnostic Challenges In Adcamentioning

confidence: 99%

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review

Novis

Spitz

Jardim

et al. 2020

Arq. Neuro-Psiquiatr.

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Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives.

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“…Patients with SCA10 are characterized by the core clinical phenotype of progressive cerebellar ataxia, and although epilepsy is frequently observed, its occurrence is more variable within and between families than ataxia ( Matsuura et al, 1999 ; Zu et al, 1999 ; Matsuura et al, 2000 ; Grewal et al, 2002 ; Seixas et al, 2005 ; Raskin et al, 2007 ; Teive et al, 2010 ; de Castilhos et al, 2014 ; Schüle et al, 2017 ; Domingues et al, 2019 ; Domingues et al, 2019 ; Nascimento et al, 2019 ; Ramirez-Garcia et al, 2022 ) ( Table 2 ). SCA10 has been reported in Mexican, Brazilian, Colombian, Argentinian, Peruvian, Bolivian, or Venezuelan families with Indigenous American ancestry ( Matsuura et al, 2000 ; Rasmussen et al, 2001 ; Alonso et al, 2007 ; Gatto et al, 2007 ; Gatto et al, 2007 ; Raskin et al, 2007 ; Roxburgh et al, 2013 ; Leonardi et al, 2014 ; Baizabal-Carvallo et al, 2015 ; Paradisi et al, 2015 ; Domingues et al, 2019 ; Ramirez-Garcia et al, 2022 ) and in Chinese and Japanese families ( Wang et al, 2015 ; Naito et al, 2017 ; Mao et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

“…SCA10 is mainly reported in individuals from Latin American countries such as Mexico ( Matsuura et al, 2000 ; Matsuura et al, 2002 ; Rasmussen et al, 2001 ; Alonso et al, 2007 ), Brazil ( Raskin et al, 2007 ; Teive et al, 2010 ; Domingues et al, 2019 ; Nascimento et al, 2019 ), Peru ( Leonardi et al, 2014 ), Bolivia ( Baizabal-Carvallo et al, 2015 ), Venezuela ( Teive et al, 2010 ; Paradisi et al, 2015 ), Colombia ( Roxburgh et al, 2013 ), or Argentina ( Gatto et al, 2007 ; Teive et al, 2010 ) but not in European, African, South Asian, or Oceanic countries. The geographic distribution strongly supports a founder effect in the SCA10 allele.…”

Section: Introductionmentioning

confidence: 99%

The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10

Kurosaki

Ashizawa

2022

Front. Genet.

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Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy. This disease mainly occurs in individuals with Indigenous American or East Asian ancestry, with strong evidence supporting a founder effect. The mutation causing SCA10 is a large expansion in an ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. The ATTCT repeat is highly unstable, expanding to 280–4,500 repeats in affected patients compared with the 9–32 repeats in normal individuals, one of the largest repeat expansions causing neurological disorders identified to date. However, the underlying molecular basis of how this huge repeat expansion evolves and contributes to the SCA10 phenotype remains largely unknown. Recent progress in next-generation DNA sequencing technologies has established that the SCA10 repeat sequence has a highly heterogeneous structure. Here we summarize what is known about the structure and origin of SCA10 repeats, discuss the potential contribution of variant repeats to the SCA10 disease phenotype, and explore how this information can be exploited for therapeutic benefit.

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Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families

Cited by 17 publications

References 34 publications

Functionality and disease severity in spinocerebellar ataxias

Functionality and disease severity in spinocerebellar ataxias

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review

The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10

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