Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

Brussino, Alessandro; Graziano, Claudio; Giobbe, Dario; Ferrone, Marina; Dragone, E.; Arduino, Carlo; Lodi, Raffaele; Tonon, Caterina; Gabellini, A. S.; Rinaldi, Rita; Miccoli, Sara; Grosso, Enrico; Bellati, Maria Cristina; Orsi, Laura; Migone, Nicola; Brusco, Alfredo

doi:10.1002/mds.22835

Cited by 28 publications

(24 citation statements)

References 24 publications

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“…This is quite similar to a few sporadic Japanese cases of SCA31 previously reported [7,8]. Because of the possibility of incomplete penetrance, it may be very common to find sporadic cases in many autosomal dominant hereditary diseases [17,26,27]. Therefore, we suggest that incomplete penetrance might be suspected in SCA31.…”

Section: Discussionsupporting

confidence: 75%

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Spinocerebellar ataxia type 31 exists in Northeast China

Ouyang

et al. 2012

Journal of the Neurological Sciences

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Section: Discussionsupporting

confidence: 75%

“…Genomic DNA was extracted from peripheral blood leukocytes. Screening for the trinucleotide repeat (CAG or CTG) expansions for SCA1, 2, 3, 6, 7, 8, 12, 17 and DRPLA was performed on samples from all 86 patients by PCR as described elsewhere [11][12][13][14][15][16][17][18][19].…”

Section: Molecular Analysismentioning

confidence: 99%

Spinocerebellar ataxia type 31 exists in Northeast China

Ouyang

et al. 2012

Journal of the Neurological Sciences

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“…SCA12, a mild form of SCA, has a very slow disease progression . Considering the rarity of SCA12 worldwide, only limited studies are available in the literature; therefore, the diagnosis, prognosis, and management of SCA12 remains a daunting task.…”

Section: Discussionmentioning

confidence: 99%

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Choudhury

Chatterjee

et al. 2017

Movement Disord Clin Pract

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Background: Spinocerebellar ataxia type 12 (SCA12) is a rare form of an autosomal-dominant ataxic disorder associated with an expansion of CAG repeat length. Here, we present a large case series of patients with SCA12 and describe a wide range of typical and rare symptoms. Methods: Twenty-one consecutive patients with genetically proven SCA12 underwent detailed neurological examination. We assessed clinical characteristics using validated rating scales for evaluating motor features in SCA. Nonmotor symptoms and quality of life were assessed using appropriate, validated scales. Correlations of CAG repeat length with both severity score and age of onset were explored. Results: The mean age of onset was 51 years, and most patients were descendants of a single, endogamous Indian community (Agarwal). Tremor was the most common initial presenting symptom (90%). Hand dystonia was present in 14 of 21 patients, and most patients in the cohort presented with gait disturbance. Neuropsychiatric manifestations were common coexisting features. The CAG repeat length was significantly correlated (r = À0.760; P = 0.0001) with early age of onset, but not with disease severity. Tremor affected the quality of life in 18 of 21 patients, because they had difficulty in handling liquids. Conclusions: Tremor was the most common, nonataxic symptom at initial presentation in patients with SCA12. Proximal upper limb tremor, typically with high amplitude and low frequency, can raise a strong diagnostic suspicion. Associated hand dystonia was a common coexisting motor feature. Various nonmotor features were also observed in several cases which require therapeutic attention.

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“…Though SCA12 is very rare, except for a single ethnic group in India, two Italian families have been identified recently [72]. Along with SCA8, the pathogenesis of SCA12 seems to be related to a toxic effect at the RNA level.…”

Section: Clinical Description Of Subformsmentioning

confidence: 99%

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Whaley

Fujioka

Wszołek

2011

Orphanet J Rare Dis

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Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. The global prevalence of this disease is not known. The most common type I ADCA is SCA3 followed by SCA2, SCA1, and SCA8, in descending order. Founder effects no doubt contribute to the variable prevalence between populations. Onset is usually in adulthood but cases of presentation in childhood have been reported. Clinical features vary depending on the SCA subtype but by definition include ataxia associated with other neurological manifestations. The clinical spectrum ranges from pure cerebellar signs to constellations including spinal cord and peripheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmologic signs, psychiatric problems, and seizures. Cerebellar ataxia can affect virtually any body part causing movement abnormalities. Gait, truncal, and limb ataxia are often the most obvious cerebellar findings though nystagmus, saccadic abnormalities, and dysarthria are usually associated. To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA). Type I ADCA can be further divided based on the proposed pathogenetic mechanism into 3 subclasses: subclass 1 includes type I ADCA caused by CAG repeat expansions such as SCA1-SCA3, SCA17, and DRPLA, subclass 2 includes trinucleotide repeat expansions that fall outside of the protein-coding regions of the disease gene including SCA8, SCA10 and SCA12. Subclass 3 contains disorders caused by specific gene deletions, missense mutation, and nonsense mutation and includes SCA13, SCA14, SCA15/16, SCA27 and SCA28. Diagnosis is based on clinical history, physical examination, genetic molecular testing, and exclusion of other diseases. Differential diagnosis is broad and includes secondary ataxias caused by drug or toxic effects, nutritional deficiencies, endocrinopathies, infections and post-infection states, structural abnormalities, paraneoplastic conditions and certain neurodegenerative disorders. Given the autosomal dominant pattern of inheritance, genetic counseling is essential and best performed in specialized genetic clinics. There are currently no known effective treatments to modify disease progression. Care is therefore supportive. Occupational and physical therapy for gait dysfunction and speech therapy for dysarthria is essential. Prognosis is variable depending on the type of ADCA and even among kindreds.

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Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

Cited by 28 publications

References 24 publications

Spinocerebellar ataxia type 31 exists in Northeast China

Spinocerebellar ataxia type 31 exists in Northeast China

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

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