Neonatal <scp>SCA</scp>2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia

Avelino, Marcela Amaral; Pedroso, José Luiz; Orlacchio, Antonio; Barsottini, Orlando Graziani Póvoas; Masruha, Marcelo Rodrigues

doi:10.1002/mdc3.12050

Cited by 3 publications

(7 citation statements)

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“…16 Only a few reports mentioned that patients with SCA2 could present with choreiform movements; these reports are summarized in Table 1. 2,[17][18][19][20] Hyperkinetic movements may serve as the sole presenting symptom during the course of SCA2, as well as one of the complicated combinations of diverse symptoms. Although involuntary movement is a particularly common feature of SCA17 and DRPLA, other SCA subtypes, including SCA1, SCA2, and SCA3, may also include the onset of chorea.…”

Section: Discussionmentioning

confidence: 99%

Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma

Zhou²

2019

J Int Med Res

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Spinocerebellar ataxia type 2 (SCA2) is a rare disease characterized by slowly progressive ataxia, dysarthria, ophthalmoplegia, and slow saccade. SCA2 can present with a complex combination of hyperkinetic and hypokinetic movement disorders. Here, we describe a patient with SCA2 that partly mimicked the clinical manifestations of Huntington’s disease; similar symptoms had previously occurred in the patient’s family members. The findings in this report indicate that, when a patient exhibits choreiform movement (i.e., accompanying cerebellar ataxia), an SCA2-related mutation could be responsible for the onset of disease. In addition, this knowledge of the potential for extrapyramidal involvement in such patients is critical for clinicians.

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Section: Discussionmentioning

confidence: 99%

Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma

Zhou²

2019

J Int Med Res

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“…Certainly, the present case started with symptoms since birth and severe neurological deterioration and a genotype with a longer allele, compared with other neonatal cases (Babovic et al, 1998;Dirik et al, 2007). So, the range in 19 reported cases with SCA2 with age of onset in childhood was 0-48 months, which were carriers of the heterozygous genotype (22/X), in which X corresponds to an allele with abnormal expansion repeats with an average range of 62-841 repeats (Table 1) (Babovic et al, 1998;Mao et al, 2002;Moretti et al, 2004;Dirik et al, 2007;Abdel and Zaki, 2008;Paciorkowski et al, 2011;Di Fabio et al, 2012;Vinther-Jensen et al, 2013;Avelino et al, 2014;Singh et al, 2014).…”

mentioning

confidence: 91%

“…6 mo 22/*320 Father 22/47 NR Avelino et al, 2014 A 1-year-old Brazilian girl presented the phenotype of very early-onset SCA2 (neonatal form) encephalopathy, with hypotonia, choreic movements, dystonia with dystonic jerks, seizures, and retinitis, motor developmental delay. During the neonatal period (first mo), she presented hypotonia, dysphagia, and frequent gastroesophageal reflux.…”

mentioning

confidence: 99%

“…So, the range in 19 reported cases with SCA2 with age of onset in childhood was 0-48 months, which were carriers of the heterozygous genotype (22/X), in which X corresponds to an allele with abnormal expansion repeats with an average range of 62-841 repeats ( Table 1 ) ( Babovic et al , 1998 ; Mao et al , 2002 ; Moretti et al , 2004 ; Dirik et al , 2007 ; Abdel and Zaki, 2008 ; Paciorkowski et al , 2011 ; Di Fabio et al , 2012 ; Vinther-Jensen et al , 2013 ; Avelino et al , 2014 ; Singh et al , 2014 ).…”

mentioning

confidence: 99%

“…There are two clinical prognostic severity markers in SCA2, which are saccades and dysphagia ( Wadia et al , 1998 ). Dysphagia was reported in five cases with massive repeats, greater than 200 repeats ( Babovic et al , 1998 ; Mao et al , 2002 ; Abdel and Zaki, 2008 ; Avelino et al , 2014 ). The present case presented dysphagia since birth.…”

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confidence: 99%

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A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

et al. 2020

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The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky. The mother aged 27 years-old presented progressive cerebellar ataxia, dysarthria, dysmetria, dysdiadochokinesis, limb ataxia and olivopontocerebellar atrophy. The molecular analysis was made by identifying the expansion repeats in tandem by long PCR to analyze the repeats in the ATXN2 gene. We found an extreme CAG expansion repeats of~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon.

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Unraveling movement disorders in spinocerebellar ataxia

Radhakrishnan¹,

Pillai²,

Das³

et al. 2022

Annals of Movement Disorders

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Spinocerebellar ataxia (SCA) is a clinically heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum and its associated connections. Genetic defects causing SCA include trinucleotide repeat expansions in the coding and non-coding regions of the genes, gene rearrangements, and conventional mutations. Various non-ataxic manifestations, such as dementia, peripheral neuropathy, and movement disorders (MDs) are described in SCA. MDs are the most common non-ataxic manifestations of SCA, and their prevalence and type vary according to the underlying genetic defects as well as the geographical and ethnic differences. In addition to the size of the repeat expansions, genetic modifiers contribute to the phenotypic pleiotropy of SCA. When present in association with ataxia, MDs may provide an important diagnostic clue for genotyping. However, patients with SCA presenting with MDs can be a diagnostic challenge when cerebellar ataxia is subtle or absent. Certain MDs may be more frequent in particular SCA subtypes compared to others. Similarly, MD may be an infrequent but pertinent manifestation in specific subtypes of SCA. Knowledge about MDs in SCA can help clinicians choose the genetic tests appropriately. Our paper comprehensively reviews the spectrum of MDs in SCA, and attempt to guide clinicians in choosing appropriate genetic tests for SCA in patients presenting with isolated or prominent MDs.

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Neonatal SCA2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia

Cited by 3 publications

References 10 publications

Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma

Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma

A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

Unraveling movement disorders in spinocerebellar ataxia

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