Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

“…2 Patients had been eligible for inclusion into the ARCA Registry if they had (1) a genetically confirmed ARCA; and/or (2) onset before age 40 years without evidence of an autosomal dominant family history, repeat expansion in spinocerebellar ataxia genes, or acquired cause, thus representing a stratum of patients with ataxia known to be enriched for recessive ataxia disease. 3,4 Patients with Friedreich's ataxia (FA; n = 112) were not included because (1) FA is already covered in parallel by other European natural history registries (eg, EFACTS), 5 which would lead to a distorted, nonrepresentative frequency estimate in the current study; (2) this study focused on the rare and less well-studied ARCAs; and (3) disease data as investigated in this study are thus already available elsewhere. 5 A total of 677 patients were included in this study, rendering it the largest European ARCA frequency study to date.…”

Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17

“…14 Evers et al 11 Reviewing the literatures, most ARCAs have heterogeneous age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs. [15][16][17][18][19] These novel variants are likely to reduce the severity of the phenotype compared with that in patients with homozygous or compound heterozygous nonsense variants.…”

Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective study of 884 patients with autosomal recessive or early-onset ataxia

“…Datasets included (i) genotypic and demographic data, (ii) assessments of ataxia severity (SARA 1 ) and non-ataxia features (including the Inventory of Non-Ataxia Signs (INAS) 21 ), and (iii) the functional staging (FARS-FS) and activities of daily living (FARS-ADL) scales of the Friedreich Ataxia Rating Scale (FARS) 22 as patient-focused outcomes. Patients had been eligible for inclusion into the ARCA Registry if they had (i) a genetically confirmed autosomal recessive cerebellar ataxia (ARCA), and/or (ii) an early-onset ataxia (EOA) with onset before age 40 years without evidence of an autosomal dominant family history, repeat-expansion SCA or acquired cause (e.g., subacute onset, rapid progression, alcohol intake, abnormal B12 levels, CSF pleocytosis, or structural lesions on imaging), thus representing a stratum of ataxia patients known to be enriched for ARCAs 23, 24 . Discarding eligibility failures and datasets with neither SARA nor phenotypic data, a total of 931 ARCA/EOA patients were included in the final analysis.…”

“…Patients had been eligible for inclusion into the ARCA Registry if they had (i) a genetically confirmed autosomal recessive cerebellar ataxia (ARCA), and/or (ii) an early-onset ataxia (EOA) with onset before age 40 years without evidence of an autosomal dominant family history, repeat-expansion SCA or acquired cause (e.g., subacute onset, rapid progression, alcohol intake, abnormal B12 levels, CSF pleocytosis, or structural lesions on imaging), thus representing a stratum of ataxia patients known to be enriched for ARCAs 23,24 . Discarding eligibility failures and datasets with neither SARA nor phenotypic data, a total of 931 ARCA/EOA patients were included in the final analysis.…”