Babovic et al, 1998Babovic VD, Snow K, Patterson MC and Michels VV (1998) Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet 79:383-387
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Child was born with neonatal hypotonia, at 2 wk progressive apnea, developmental delay, and dysphagia, Retinitis pigmentosa was noted at 10 mo. Next 7 mo, the child remained hypotonic with increase feeding difficulties, dysphagia, and more frequent apneas. The child continued to show slow progression of her neurological symptoms and died from respiratory complications. |
Newborn |
23/~220 |
Father 22/43 |
2 yr |
Mao et al, 2002Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM et al. (2002) Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet 110:338-345.
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Male with severe hypotonia, 2 mo; poor head control, Poor visual alertness; no retinopathy; intermittent esotropia. At 7 mo: marked cerebellar atrophy, delayed myelination. EEG: hypsarrhythmia at 14 mo |
11 mo |
22/230 |
Father 22/40 |
22 mo |
Mao et al, 2002Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM et al. (2002) Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet 110:338-345.
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Male with hypotonia, developmental delay and dysphagia, Retinitis pigmentosa. MRI At 3 mo: normal. EEG: normal at 3 mo. |
10 mo |
22/400 |
Father 22/43 |
2 yr |
Mao et al, 2002Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM et al. (2002) Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet 110:338-345.
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Male with encephalopathy, chronic seizures, hypertonic extremities, chronic seizures, axial, hypotonia, severe developmental retardation, microcephaly, short stature, Visual impairment, In MRI Cerebellar atrophy, EEG: hypsarrhythmia |
3 mo |
22/350 |
Father 22/40 |
NR |
Mao et al, 2002Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM et al. (2002) Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet 110:338-345.
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Male with hypotonia, visual impairment, delayed motor development, nystagmus, dysconjugated, gaze, convergent, strabismus, pigmentary, retinopathy, MRI at 7 mo: mild diffuse parenchymal loss, delayed myelination. At 18 mo: moderate diffuse cerebellar atrophy, EEG repetitive discharges of sharp and slow wave activity; pronounced slowing of EEG |
10 mo |
22/500 |
Mother 22/45 |
NR |
Moretti et al, 2004Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B and Scaglia F (2004) Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am J Med Genet A 124A:392-396.
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A male child initially presented with abnormal eye movements at age 2 mo, developmental delay at 6 mo. At the 7 yr he developed ataxia and cognitive impairment, and subsequently manifested dysphagia and incontinence. At age 11 yr, he had bilateral external ophthalmoplegia, ataxic dysarthria, dysmetria and tremor in the upper extremities, and marked gait ataxia, and brain MRI demonstrated cerebellar, brainstem, and cerebral atrophy. |
2 mo |
22/62 |
Mother 22/22. Father non tested. |
NR |
Dirik et al, 2007Dirik E, Yis U, Basak N, Soydan E, Hüdaoglu O and Ozgönül F (2007) Spinocerebellar ataxia type 2 in a Turkish family. J Child Neurol 22:891-894.
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A female baby appeared completely normal at birth. At the age of 5 yr, began ataxia, dysarthria, head titubation, and cognitive deficits. At age 8 yr, she was not able to walk because of severe ataxia. She also had drooling, feeding problems, and bladder dysfunction. Severe truncal ataxia, tremor, dysarthria, dysmetria, hyporeflexia, and slow saccades. |
5 yr |
22/70 |
Father 22/40 |
NR |
Abdel et al., 2008Abdel AA and Zaki MS (2008) Spinocerebellar ataxia type 2 (SCA2) in an an Egyptian family presenting with polyphagia and marked CAG expansion in infancy. J Neurol 55:413-419.
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Proband male starting as early as 2 yr old with progressive extrapyramidal manifestations, slow eye movements and cognitive impairment. The patient lost all cognitive functions, had persistent dystonic, vasomotor instability, and dysphagia and died at the age of 7 yr. The early neurological symptoms included choreoathetotic, myoclonic jerk, gait difficulty, and emotional liability, ataxia, incoordination, dysarthria, mild dementia and slow eye saccades predominated. Peripheral neuropathy, polyphagia and obesity. |
24 mo |
22/ 69 to 75 |
Father 22/ 39 |
7 yr |
Paciorkowski et al, 2011Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB and Gomez CM (2011) Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology 77:1055-1060.
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This infant girl presented with apnea at 2 wk, occipital-frontal circumference was 3 SD at 10 mo of age, Retinitis pigmentosa, developed infantile spasms at 16 mo, with hypsarrhythmia on EEG. She died at two yr old from respiratory complications. |
2 wk |
22/220 |
Mother 22/43 |
2 yr |
Paciorkowski et al, 2011Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB and Gomez CM (2011) Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology 77:1055-1060.
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This infant girl presented hypotonia at 6 mo, optic nerve atrophy, cerebellar atrophy and delayed myelination and enlarged lateral ventricles, and obvious cerebellar and brainstem atrophy. At 14 mo she developed infantile spasms with hypsarrhythmia. She had relative microcephaly and optic nerve atrophy. Death at 22 mo due to aspiration pneumonia. |
6 mo |
22/200 |
Father 22/42 |
22 mo |
Paciorkowski et al, 2011Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB and Gomez CM (2011) Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology 77:1055-1060.
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This infant boy presented at 3 mo with focal seizures. At 10 mo he developed infantile spasms with hypsarrhythmia. Brain MRI at 10 mo showed prominent sulci frontally, enlargement of the lateral and third ventricles, and an atrophic-appearing cerebellum. At 12 mo he was microcephaly, diagnosed cortical visual impairment. He had impaired swallowing and autonomic instability. He died at 13 mo. |
3 mo |
22/ > 200 |
Mother 22/45 |
13 mo |
Paciorkowski et al, 2011Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB and Gomez CM (2011) Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology 77:1055-1060.
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This infant girl presented with loss of head control and poor visual fixation at 3 mo and at 5 mo she had myoclonic seizures. At 17 mo EEG showed high-amplitude bursts of slow waves with polyspikes reminiscent of hypsarrhythmia. Brain MRI at 6 mo showed diffuse parenchymal volume loss and delayed myelination. She was microcephaly and by 21 mo with minimal visual interaction and retinitis pigmentosa. She died at 32 mo. |
3 mo |
22/500 |
Father 22/40 |
32 mo |
Paciorkowski et al, 2011Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB and Gomez CM (2011) Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology 77:1055-1060.
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This infant girl had global developmental delay in infancy, and microcephaly. At 4 yr she was failing to thrive with poorly coordinated swallow, at the 10 mo later began to lose motor and cognitive milestones and had autonomic dysfunction, optic nerve atrophy and retinitis pigmentosa, brain MRI at 5 yr 10 mo showed diffuse T2 white matter signal abnormalities, with cavitations of the parietooccipital lobes and cortical and cerebellar volume loss. |
48 mo |
22/750 |
Father 22/40 |
NR |
Paciorkowski et al, 2011Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB and Gomez CM (2011) Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology 77:1055-1060.
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This infant girl presented at 2 mo with poor head control and lack of visual fixation, at 7 mo she had tonic seizures, EEG at 14 mo showed multifocal epileptiform discharges. At 12 mo with retinitis pigmentosa. Brain MRI at 12 months showed mild cerebellar atrophy. The patient died after a neurodegenerative course. Pathologic examination of the cerebellum showed profound loss of Purkinje and granular neurons with severe attenuation of the molecular layer. |
2 mo |
22/300 |
Father 22/43 |
NR |
Di Fabio et al, 2012Di Fabio R, Santorelli F, Bertini E, Balestri M, Cursi L, Tessa A, Pierelli F and Casali C (2012) Infantile childhood onset of spinocerebellar ataxia type 2. Cerebellum 11:526-530.
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A girl who presented with facial dysmorphism, dystonic features, developmental delay, and retinitis pigmentosa; and associated with developmental delay and retinitis pigmentosa in early childhood. |
12 mo |
22/92 |
Father 22/51 |
|
Vinther-Jensen et al., 2013Vinther-Jensen T, Ek J, Duno M, Skovby F, Hjermind LE, Nielsen JE and Nielsen TT (2013) Germline CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. Eur J Hum Genet 21:626.
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Male and his daughter aged 6 mo, she was referred to a local hospital with uncoordinated eye movement with parallel eye axes, lack of head control and hypotonia in the upper extremities and the trunk, generalized myoclonic jerks and athetoid movements. EEG showed bilateral spike foci in the frontal and parietal regions. At the age of 9 mo, brain MRI was normal except for a relatively large cerebellum-medullary cistern. At the 13 mo, she had motor improvement, dyskinesia, delayed visual development, pallor of the optic nerves and hyperpigmentation of dystrophic retina. At the 17 mo, generalized edema and proteinuria, and minimal change glomerulonephritis. She died of sepsis and multi-organ failure 2 mo later. His brother had gait disturbances, and his daughter had died from multi-organ failure at age 19 mo. |
6 mo |
Daughter 124 CAG repeats, Brother single-cell sperm in 92, in genomic DNA 45 CAG repeats |
Father 22/45 |
19 mo |
Singh et al, 2014Singh A, Faruq M, Mukerji M, Dwivedi MK, Pruthi S and Kapoor S (2014) Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases. J Child Neurol 29:139–144.
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A 10-month male child was referred to regression of milestones since 6 mo of age. Here was no obvious dysmorphology, decreased muscle tone, inability to roll in his bed, and decreased tendon reflexes in all limbs and retinitis pigmentosa. MRI (at age of 10 mo) showed a markedly small cerebellum and vermis with associated atrophy involving the brainstem and both cerebral hemispheres. There was massive enlargement of the ventricles and enlarged infratentorial subarachnoid spaces. Additionally, diffuse T2 hyperintensity was observed within the periventricular white matter. Arachnoid cysts within the posterior fossa and right anterior temporal region were incidental findings. |
6 mo |
22/*320 |
Father 22/47 |
NR |
Avelino et al., 2014Avelino MA, Pedroso L, Orlacchio A, Barsottini OGP and Masruha MR (2014) Neonatal SCA2 presenting with choreic movements and dystonia with dystonic jerk, retinitis, seizures and hypotonia. Mov Disord Clin Pract 1:252-254.
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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. Tonic seizures, hypotonic with increased feeding difficulties, and choreic movements and dystonia with dystonic jerks. Decreased tonus and global decreased tendon reflexes. Visual fixation was poor and erratic eye, ophthalmoplegia were observed. Fundoscopy disclosed abnormal retina, with white dots, suggesting retinitis punctata albescens. Brain MRI showed marked cerebellar and brainstem atrophy and mild delayed myelination. |
Newborn |
22/104 |
Father Non determinated |
NR |