A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias

Raslan, Ivana Rocha; Barsottini, Orlando Graziani Póvoas; Pedroso, José Luiz

doi:10.1212/cpj.0000000000000966

Cited by 8 publications

(8 citation statements)

References 40 publications

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“…También se dispone de la amplificación de sondas dependientes de ligandos múltiples, hibridación fluorescente in situ o arrays de hibridación genómica comparativa. Estos estudios deben ir dirigidos, en principio, a la sospecha diagnóstica más probable y podrían ampliarse según la disponibilidad de cada centro [24][25][26][27][28][29][30][31][32] .…”

Section: Estudios Genéticos Dirigidosunclassified

Ataxias hereditarias: clasificación y diagnóstico

Gutiérrez¹,

Abildúa²

2024

KRANION

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Las ataxias hereditarias (AH) son enfermedades neurodegenerativas de base genética que traducen una disfunción del cerebelo y sus conexiones. Si el cuadro clínico se limita a la afectación del cerebelo se consideran «ataxias puras»; si implica la coexistencia de las manifestaciones cerebelosas con la afectación de otras estructuras neurológicas o sistémicas se aplica el concepto de «ataxia-plus». En España, las cifras de prevalencia de las AH en los años 2018-2019 se estiman en 5,48 casos/100.000 habitantes. Dentro de las AH podemos encontrar ataxias con patrón de herencia autosómica dominante, autosómica recesiva, ligada al cromosoma X o mitocondrial. El descubrimiento de los genes causales de las AH es muy relevante para clasificarlas según los perfiles biológicos junto con sus características clínicas. Según la edad de inicio reconocemos cinco categorías principales: ataxias congénitas, ataxias de inicio muy precoz durante la infancia (< 2 años), ataxias de inicio durante la niñez (2-12 años), ataxias de inicio durante la adolescencia hasta la edad adulta temprana (< 25 años) y ataxias de inicio tardío después de los 25 años. En función del patrón de herencia genética describimos en tablas las AH principales dominantes, recesivas, mitocondriales, así como un resumen de las principales AH y las ataxias episódicas. Finalmente se aborda el protocolo de estudio de las AH y se resume el tratamiento fisiopatológico de las que lo permiten.

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Section: Estudios Genéticos Dirigidosunclassified

Ataxias hereditarias: clasificación y diagnóstico

Gutiérrez¹,

Abildúa²

2024

KRANION

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“…Chronic non-progressive ataxias are conditions that manifest with chronic ataxia with a stable (non-progressive) evolution. In this group are included congenital ataxias and their four subgroups recently proposed: cerebellar malformation, syndromic congenital ataxias, congenital cerebellar hypoplasia, and pontocerebellar hypoplasia [47]. Cerebellar structural disruption related to congenital infectious, tumours and stroke are also chronic non-progressive ataxias (Table 3).…”

Section: Chronic Non-progressive Ataxiasmentioning

confidence: 99%

“…Other common features include seizures, ocular signs (nystagmus, strabismus), behaviour changes, and microcephaly. Most cases have a non-progressive course, and patients report improvement in their motor and cognitive skills over time [47]. Recently, Raslan et al [47] have proposed to classify CA into four categories:…”

Section: Congenital Ataxiamentioning

confidence: 99%

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Childhood-Onset Ataxia

Munoz Chesta,

Troncoso-Schifferli

2024

Ataxia - Practice Essentials and Interventions

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Childhood presentations of ataxia can often be challenging to diagnose. Recognising ataxia is especially difficult in young children, the most frequent reason for consultation is walking instability and loss of balance. Clinical presentations tend to be heterogeneous; key considerations may vary based on the age of onset, time course, and associated manifestations. Ataxias can be acute, intermittent, chronic non-progressive, or chronic progressive conditions. Acute ataxias are mostly acquired conditions (post-infectious or immune-mediated). Intermittent ataxias may be secondary to genetic channelopathies or metabolic diseases. Non-progressive chronic ataxias are mostly related to cerebellar malformations and progressive chronic ataxias are usually secondary to genetic variants, which in children are usually autosomal recessive conditions. A complete medical history and a detailed physical examination are essential for an adequate approach. Treatment of a child with ataxia depends on the aetiology. One of the most important challenges is to identify the treatable causes.

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“…Next-generation sequencing, via whole-exome sequencing or targeted gene panels, in combination with clinical phenotyping is the most efficient diagnostic protocol for CDG gene identification and is essential for a definitive diagnosis. Glycan and glycopeptides structural analysis by mass spectrometry can be very useful to substantiate or confirm potential pathological genetic variants in enzymes and transporters involved in the Golgi processing of glycan (122). Though, an increasing number of new technologies continue to be proposed (123).…”

Section: Diagnosis Of Congenital Disorders Of Glycosylationmentioning

confidence: 99%

Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review

Colantuono

D’Acunto

Melis

et al. 2021

Journal of Pediatric Gastroenterology &Amp; Nutrition

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An ever-increasing number of disturbances in glycosylation have been described to underlie certain unexplained liver diseases presenting either almost isolated or in a multi-organ context. We aimed to update previous literature screenings which had identified up to 23 forms of congenital disorders of glycosylation (CDG) with associated liver disease. We conducted a comprehensive literature search of three scientific electronic databases looking at articles published during the last 20 years (January 2000-October 2020). Eligible studies were case reports/series reporting liver involvement in CDG patients. Our systematic review led us to point out 41 forms of CDG where the liver is primarily affected (n ¼ 7) or variably involved in a multisystem disease with mandatory neurological abnormalities (n ¼ 34). Herein we summarize individual clinical and laboratory presentation characteristics of these 41 CDG and outline their main presentation and diagnostic cornerstones with the aid of two synoptic tables. Dietary supplementation strategies have hitherto been investigated only in seven of these CDG types with liver disease, with a wide range of results. In conclusion, the systematic review recognized a liver involvement in a somewhat larger number of CDG variants corresponding to about 30% of the total of CDG so far reported, and it is likely that the number may increase further. This information could assist in an earlier correct diagnosis and a possibly proper management of these disorders.

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A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias

Cited by 8 publications

References 40 publications

Ataxias hereditarias: clasificación y diagnóstico

Ataxias hereditarias: clasificación y diagnóstico

Childhood-Onset Ataxia

Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review

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