A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil

Rangel, Deborah Moreira; Nóbrega, Paulo Ribeiro; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Braga‐Neto, Pedro

doi:10.1016/j.parkreldis.2018.10.027

Cited by 13 publications

(7 citation statements)

References 11 publications

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“…Intellectual disability associated with IMPA1 (MRT59) was initially described in a large consanguineous family from the hinterlands of Northeast Brazil. Consanguinity is fairly common in these backlands, and high consanguinity rates may increase the probability of autosomal recessive diseases, as has been previously reported in cerebellar ataxias [18]. Additionally, high consanguinity rates increase the yield of genetic prospection for new disease-associated genes and variants.…”

Section: Discussionmentioning

confidence: 81%

Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)

et al. 2023

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Biallelic loss of function of IMPA1 causes autosomal recessive intellectual developmental disorder 59 (MRT59, OMIM #617323). MRT59 has been reported to present with significant intellectual disability and disruptive behavior, but little is known about the neurocognitive pattern of those patients. Thus, the aims of this study were: (1) to assess the cognitive profile of these patients, and (2) to evaluate their functional dependence levels. Eighteen adults, aged 37 to 89 years, participated in this study: nine MRT59 patients, five heterozygous carriers and four non-carrier family members. All of them were from a consanguineous family living in Northeast Brazil. All IMPA1 patients had the (c.489_493dupGGGCT) pathogenic variant in homozygosis. For cognitive assessment, the WASI battery was applied in nine MRT59 patients and compared to heterozygous carriers and non-carrier family members. Functional dependence was evaluated using the functional independence measure (FIM). Patients showed moderate to severe intellectual disability and severe functional disabilities. Heterozygous carriers did not differ from non-carriers. MRT59 patients should be followed up by health professionals in an interdisciplinary way to understand their cognitive disabilities and functional needs properly.

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Section: Discussionmentioning

confidence: 81%

Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)

et al. 2023

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“…All reported patients were homozygous for likely pathogenic or pathogenic variants in ARG1. Most patients were from small cities in the Brazilian countryside where consanguineous marriages are relatively common, and an increased incidence of autosomal recessive disorders has been previously reported in some of these populations ( Rangel et al 2019 ).…”

Section: Discussionmentioning

confidence: 99%

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Freua

Almeida

Nóbrega

et al. 2022

Cold Spring Harb Mol Case Stud

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Introduction: Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder characterized by lower limb spasticity. This study presents 7 patients with arginase 1 deficiency from 6 different families, all with an initial diagnosis of complicated HSP. Methods: We evaluated the clinical data of 7 patients belonging to six independent families who were diagnosed with hyperargininemia in a neurogenetics outpatient clinic. Results: All patients had lower limb spasticity and six had global developmental delay. Five individuals had intellectual disability and two had epilepsy. Psychiatric abnormalities were seen in two patients. In two participants of this study, MRI disclosed thinning of the corpus callosum. Molecular diagnosis was made by whole exome sequencing. All variants were present in homozygosis; we identified two novel missense variants, one novel frameshift variant, and one previously published missense variant. Discussion: Clinical diagnosis of early onset complicated hereditary spastic paraplegia was made in all patients. Two patients were initially suspected of having SPG11 due to thinning of the corpus callosum. As argininemia may present with a highly penetrant phenotype of spastic paraplegia associated with additional symptoms, this disease may represent a specific entity amongst the complicated HSPs.

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“…In a study with 104 families with SCA, Teive et al 23 found a high prevalence for SCA 3 (72.46%) followed by SCA 10 (11.6%). Braga-Neto et al 24 evaluated 45 families from the Northeast of the country with ataxia and identified a high consanguinity rate (40.7%). In this series, a higher prevalence of recessive autosomal ataxias (33.3%) was identified compared to dominant autosomal ataxias (6.6%), in contrast to other Brazilian epidemiological studies.…”

Section: Epidemiological Contextmentioning

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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A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil

Cited by 13 publications

References 11 publications

Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)

Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

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

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