Dentatorubral-Pallidoluysian Atrophy: An Update

Carroll, Liam; Massey, Thomas; Wardle, Mark; Peall, Kathryn J.

doi:10.7916/d81n9hst

Cited by 23 publications

(18 citation statements)

References 69 publications

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“…Epidemiología: Es más común en población de ascendencia japonesa, con incidencia de 2-7 por 1 000 000 de habitantes. En estudios a nivel de América Latina, tiene frecuencia de 0,14-3,1% en cohortes en Brasil y Venezuela (19).…”

Section: Atrofia Dentato-rubro-pálido-luisianaunclassified

“…Los pacientes que se presentan sin epilepsia mioclónica progresiva tienen mayor edad de inicio (>20 años) y menor cantidad de repeticiones (54-67). Se caracteriza por ataxia, deterioro cognitivo y coreoatetosis (1,19). Diagnóstico: Es difícil por la heterogeneidad de la presentación, se puede confundir con otras ataxias espinocerebelosas.…”

Section: Atrofia Dentato-rubro-pálido-luisianaunclassified

“…Se debe realizar pruebas genéticas en pacientes con un patrón de herencia autosómica dominante e historia familiar de deterioro cognitivo, demencia o alteraciones del movimiento. El estudio genético se basa en análisis de repeticiones CAG en el gen ATN1 (19).…”

Section: Atrofia Dentato-rubro-pálido-luisianaunclassified

“…Para los movimientos coreoatetoicos y distónicos se usa tetrabenazina, risperidona, bromazepam y gabapentina. Para la ataxia se recomienda riluzol o amantadina (19).…”

Section: Atrofia Dentato-rubro-pálido-luisianaunclassified

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Epilepsias mioclónicas progresivas

Vasquez-Baiocchi¹,

Burneo²

2021

Rev Neuropsiquiatr

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Las epilepsias mioclónicas progresivas (EMP) son enfermedades neurodegenerativas infrecuentes, clínica y genéticamente heterogéneas, caracterizadas por presentar mioclonías de acción, crisis epilépticas y deterioro neurológico progresivo. Afectan principalmente a niños y adolescentes. Su cuadro clínico inicial dificulta un adecuado diagnóstico diferencial con otras enfermedades neurológicas genéticas más frecuentes como la epilepsia mioclónica juvenil. Se sabe que la mayoría de mutaciones genéticas que causan estas enfermedades reflejan una herencia autosómica recesiva, con variantes dominante o mitocondrial de excepcional frecuencia. El diagnóstico tiene lugar cuando se identifican las mutaciones en un paciente con un cuadro clínico característico (como es el caso de la enfermedad de Unverritch-Lundborg o la EMP del Mar del Norte). Por otro lado, en algunos casos son más útiles la anatomía patológica (para la enfermedad de cuerpos de Lafora o la epilepsia mioclónica con fibras rojas rasgadas) o exámenes auxiliares específicos (vgr., ácido siálico en orina para Sialidosis). Es importante hacer el diagnóstico específico ya que ello permite un tratamiento genético definido para algunas de estas enfermedades. El manejo de las crisis epilépticas incluye el uso de valproato como fármaco de primera línea, en tanto que otros como zonisamida y levetiracetam constituyen una segunda línea; sin embargo, la falta de respuesta al tratamiento médico antiepiléptico es relativamente común. El pronóstico puede variar entre una enfermedad y otra, pero, por lo general, suele ser desfavorable conduciendo a discapacidad severa o muerte temprana.

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Section: Atrofia Dentato-rubro-pálido-luisianaunclassified

“…Para los movimientos coreoatetoicos y distónicos se usa tetrabenazina, risperidona, bromazepam y gabapentina. Para la ataxia se recomienda riluzol o amantadina (19).…”

Section: Atrofia Dentato-rubro-pálido-luisianaunclassified

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Epilepsias mioclónicas progresivas

Vasquez-Baiocchi¹,

Burneo²

2021

Rev Neuropsiquiatr

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“…Afterwards this patient was included in a neurocognitive syndrome cohort reported by Palmer et al ( 2019 ), in which all patients harbored a de novo variant in the HX motif of ATN1 gene (MIM: 607462) (Palmer et al, 2019 ). The new syndrome was named as CHEDDA to distinguish it from another neurodegenerative disorder called dentatorubro‐pallidoluysian atrophy (DRPLA) (MIM: 125370), and that is caused by the abnormal expansion of CAG repeats in exon 5 of ATN1 (Carroll et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review

Luo

Xiong

et al. 2022

Molec Gen & Gen Med

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Background: CHEDDA syndrome is a rare neurodevelopmental syndrome caused by heterozygous missense or indel variants in the HX repeat motif of ATN1 gene. To date, CHEDDA has been identified in a few ethnic groups, and only 17 patients have been reported in literature, and no case has been reported in any country or region in Asia. Methods: Trio-exome sequencing (Trio-ES) examination was conducted in aChinese girl with global developmental delay and in her parents. Sanger sequencing was performed to confirm the candidate variant.Results: This patient presented with mental and motor developmental delay, speech delay, and mild dysmorphic facial features, and had no epilepsy and visual impairment. Brain MRI did not show obvious structural abnormality.Through ES we identified a novel and de novo variant, c.3176_c.3177insGCACCT (p.Ser1059_His1060insHisLeu), within the HX motif of ATN1. No other pathogenic variant in another gene was found to support an alternative clinical and molecular diagnosis.Conclusions: This is the first described case of CHEDDA from China. Together with the available literature data, we found that either disruption of HX motif or alteration of the HX repeat number would lead to ATN1-associated CHEDDA.We also noted that CHEDDA is a clinical heterogenous syndrome, and patients carrying the same or similar variant might have different clinical manifestations and prognosis.

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Spinocerebellar ataxia clinical trials: opportunities and challenges

Brooker

Edamakanti

Akasha

et al. 2021

Ann Clin Transl Neurol

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The spinocerebellar ataxias (SCAs) are a group of dominantly inherited diseases that share the defining feature of progressive cerebellar ataxia. The disease process, however, is not confined to the cerebellum; other areas of the brain, in particular, the brainstem, are also affected, resulting in a high burden of morbidity and mortality. Currently, there are no disease-modifying treatments for the SCAs, but preclinical research has led to the development of therapeutic agents ripe for testing in patients. Unfortunately, due to the rarity of these diseases and their slow and variable progression, there are substantial hurdles to overcome in conducting clinical trials. While the epidemiological features of the SCAs are immutable, the feasibility of conducting clinical trials is being addressed through a combination of strategies. These include improvements in clinical outcome measures, the identification of imaging and fluid biomarkers, and innovations in clinical trial design. In this review, we highlight current challenges in initiating clinical trials for the SCAs and also discuss pathways for researchers and clinicians to mitigate these challenges and harness opportunities for clinical trial development.

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Dentatorubral-Pallidoluysian Atrophy: An Update

Cited by 23 publications

References 69 publications

Epilepsias mioclónicas progresivas

Epilepsias mioclónicas progresivas

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review

Spinocerebellar ataxia clinical trials: opportunities and challenges

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