Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

Donis, Karina Carvalho; Mattos, Eduardo Preusser de; Silva, André Anjos; Furtado, Gabriel Vasata; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Saute, Jonas Alex Morales

doi:10.1016/j.jns.2015.04.040

Cited by 11 publications

(14 citation statements)

References 10 publications

(6 reference statements)

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“…The two infants in our series belonging to the second group had initially developed normally, and motor regression occurred before they achieved walking as the first manifestation of SCA7. This clearly progressive course, starting at age 0.7-12 months, has been previously reported in three infants [18,20,21] (Table S2). Neurodegeneration progressed and death occurred at age 1.8-3 years.…”

Section: Phenotypes Of Childhood-onset Sca7supporting

confidence: 79%

“…This may explain why expansions >85 CAG were found in all children of our series with onset at age <5 years, including those with congenital, late infantile and early juvenile types of SCA7, implying that large expansions could not differentiate between them. However, a partial correlation between the number of CAG repeats and clinical subtype appears when combining our series with those in the literature, since all previously reported infants carried >180 CAG repeats [15][16][17][18][19][20][21]27] and children with late juvenile SCA7 had <86 CAG repeats [13,22,23]. Finally, combined data provide a provisional correlation between ranges of CAG repeats and ranges of ages of onset ( Table 1).…”

Section: Determinants Of the Natural History Of Sca7 In Childrensupporting

confidence: 64%

“…Neurodegeneration progressed and death occurred at age 1.8-3 years. Although they had different developmental trajectories, infants of both groups shared common features: (1) brain MRI showed cerebellar atrophy in most cases, sometimes associated with supratentorial [15,18] and/or Figure 4 Age at loss of ambulation and age at death (AD) according to the number of CAG repeats. (a) Age at loss of walking ability (ALOWA) according to the number of CAG repeats in 14 patients with SCA7 of our series (blue dots) and two from the literature (red dots) (Spearman r = À0.97; P < 0.001).…”

Section: Phenotypes Of Childhood-onset Sca7mentioning

confidence: 99%

“…Two paediatric clinical presentations have been identified: (1) 'juvenile SCA7', affecting children aged >3-4 years and comprising progressive retinal and cerebellar degeneration [9,13,14], and (2) 'infantile SCA7' attributable to larger stretches of CAG, affecting children younger than 2 years with retinal/neurological degeneration and cardiac involvement (patent ductus arteriosus, cardiac hypertrophy) [14][15][16][17]. Precise descriptions of these phenotypes have been provided in 14 patients carrying definite CAG expansions, including nine children with infantile SCA7 [15][16][17][18][19][20][21] and five with the juvenile type, aged 3-10 years [9,13,22,23]. Reports of children younger than 2 years confirmed the infantile phenotype, to which kidney involvement due to glomerular and/or tubular dysfunction was added [17,21].…”

Section: Introductionmentioning

confidence: 99%

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Deciphering the natural history of SCA7 in children

Bah¹,

Cazeneuve²,

Mochel

et al. 2020

Euro J of Neurology

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Background and purposeChildhood‐onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of major importance for genetic counselling and still relies on specific genetic testing, driven by clinical expertise. However, the precise phenotype and natural history of paediatric SCA7 has not yet been fully described. Our aims were to describe the natural history of SCA7 in a large multicentric series of children of all ages, and to find correlates to variables defining this natural history.MethodsWe collected and analysed clinical data from 28 children with proven SCA7. All had clinical manifestations of SCA7 and either a definite number of CAG repeats in ATXN7 or a long expansion > 100 CAG.ResultsWe identified four clinical presentation patterns related to age at onset. Children of all age groups had cerebellar atrophy and retinal dystrophy. Our data, combined with those in the literature, suggest that definite ranges of CAG repeats determine paediatric SCA7 subtypes. The number of CAG repeats inversely correlated to all variables of the natural history. Age at gait ataxia onset correlated accurately to age at loss of walking ability and to age at death.ConclusionSCA7 in children has four presentation patterns that are roughly correlated to the number of CAG repeats. Our depiction of the natural history of SCA7 in children may help in monitoring the effect of future therapeutic trials.

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Section: Phenotypes Of Childhood-onset Sca7supporting

confidence: 79%

Section: Determinants Of the Natural History Of Sca7 In Childrensupporting

confidence: 64%

Section: Phenotypes Of Childhood-onset Sca7mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Deciphering the natural history of SCA7 in children

Bah¹,

Cazeneuve²,

Mochel

et al. 2020

Euro J of Neurology

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show abstract

“…Brainstem involvement however, is an uncommon finding in SCA, but has been described in rare forms of very severe infantile onset SCA2 and SCA7 [Poretti et al, ]. Typically, other clinical findings like retinitis pigmentosa or cone‐rod dystrophy are present in these conditions [Singh et al, ; Donis et al, ].…”

Section: Discussionmentioning

confidence: 99%

A de novo missense mutation in the inositol 1,4,5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1‐related spinocerebellar ataxia's

Dijk

Barth

Reneman

et al. 2016

American J of Med Genetics Pt A

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We report a de novo missense mutation (c.7649T>A) in the inositol, 1,4,5 triphosphate receptor type 1 (ITPR1) gene in a patient with severe pontocerebellar hypoplasia. The mutation results in an amino acid substitution of a highly conserved isoleucine by asparagine (p. I2550N) in the transmembrane domain. Mutations and deletions of the ITPR1 gene are associated with several types of autosomal dominant spinocerebellar ataxia, varying in age of onset and severity. Patients have signs of cerebellar ataxia and at most, a mild cerebellar atrophy on MRI. In contrast, the patient we report here has profound cerebellar and pontine hypoplasia. Our finding therefore further expands the spectrum of ITPR1-related ataxias.

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Spinocerebellar Ataxia Type 7: From Mechanistic Pathways to Therapeutic Opportunities

Świtoński

Spada

2023

Contemporary Clinical Neuroscience

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Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

Cited by 11 publications

References 10 publications

Deciphering the natural history of SCA7 in children

Deciphering the natural history of SCA7 in children

A de novo missense mutation in the inositol 1,4,5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1‐related spinocerebellar ataxia's

Spinocerebellar Ataxia Type 7: From Mechanistic Pathways to Therapeutic Opportunities

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