Other autosomal recessive and childhood ataxias

Michele, Giuseppe De; Filla, Alessandro

doi:10.1016/b978-0-444-51892-7.00021-8

Cited by 11 publications

(5 citation statements)

References 92 publications

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“…Large phenotype diversity is present in individuals with ataxia, including age of onset, rate of progression, and other accompanying neurological and non-neurological features ( Jayadev and Bird, 2013 ), with corresponding genotypic heterogeneity ( Sandford and Burmeister, 2014 ). Even within the more defined phenotype of childhood ataxia with developmental delay, there are a large number of associated genes, such that similar phenotypic features alone are often insufficient information for an accurate diagnosis ( Burns et al, 2014 ; De Michele and Filla, 2012 ; Jayadev and Bird, 2013 ). Identification of genetic causes of childhood ataxia is important for understanding disease pathogenesis and for possible future treatment development.…”

Section: Introductionmentioning

confidence: 99%

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

Kim

Sandford

Gatica

et al. 2016

eLife

175

127

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Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (ATG) genes have been reported in human patients to date. We identified a homozygous missense mutation, changing a conserved amino acid, in ATG5 in two siblings with congenital ataxia, mental retardation, and developmental delay. The subjects' cells display a decrease in autophagy flux and defects in conjugation of ATG12 to ATG5. The homologous mutation in yeast demonstrates a 30-50% reduction of induced autophagy. Flies in which Atg5 is substituted with the mutant human ATG5 exhibit severe movement disorder, in contrast to flies expressing the wild-type human protein. Our results demonstrate the critical role of autophagy in preventing neurological diseases and maintaining neuronal health.DOI: http://dx.doi.org/10.7554/eLife.12245.001

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Section: Introductionmentioning

confidence: 99%

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

Kim

Sandford

Gatica

et al. 2016

eLife

175

127

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“…EOCA is recognized as a heterogeneous sporadic condition which was initially considered separated from FRDA. However, FRDA patients can present with an EOCA phenotype [60]. Initially a CCA pattern was described in patients with EOCA possibly contributing to the differentiation with FRDA [61].…”

Section: Discussionmentioning

confidence: 99%

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Mascalchi¹

2021

Preprint

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MRI shows in-vivo the three archetypal patterns of CNS volume loss underlying progressive ataxias, namely spinal atrophy (SA), cortical cerebellar atrophy (CCA) and olivopontocerebellar atrophy (OPCA). The MRI-based CNS atrophy pattern was reviewed in 128 progressive ataxias. A CNS atrophy pattern was identified in 91 conditions: SA in Freidreich’s ataxia, CCA in 5 acquired and 72 (24 dominant, 47 recessive,1 X-linked) inherited ataxias, OPCA in Multi-System Atrophy and 12 (9 dominant, 2 recessive,1 X-linked) inherited ataxias. The MRI-based CNS atrophy pattern may be useful for genetic assessment, identification of shared cellular targets, and repurposing therapies or enlargement of drugs indications in progressive ataxias.

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“…EOCA is recognized as a heterogeneous sporadic condition that was initially considered separated from FRDA. However, FRDA patients can present with an EOCA phenotype [60]. Initially, a CCA pattern was described in patients with EOCA, possibly contributing to the differentiation with FRDA [61].…”

Section: Uncertain Cns Atrophy-etiological Relationshipmentioning

confidence: 99%

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Mascalchi¹

2022

Tomography

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MRI shows the three archetypal patterns of CNS volume loss underlying progressive ataxias in vivo, namely spinal atrophy (SA), cortical cerebellar atrophy (CCA) and olivopontocerebellar atrophy (OPCA). The MRI-based CNS atrophy pattern was reviewed in 128 progressive ataxias. A CNS atrophy pattern was identified in 91 conditions: SA in Friedreich’s ataxia, CCA in 5 acquired and 72 (24 dominant, 47 recessive,1 X-linked) inherited ataxias, OPCA in Multi-System Atrophy and 12 (9 dominant, 2 recessive,1 X-linked) inherited ataxias. The MRI-based CNS atrophy pattern may be useful for genetic assessment, identification of shared cellular targets, repurposing therapies or the enlargement of drug indications in progressive ataxias.

show abstract

Other autosomal recessive and childhood ataxias

Cited by 11 publications

References 92 publications

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

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