Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms

Dong, Yi; Sun, Yi‐Min; Wang, Ni; Gan, Shi‐Rui; Wu, Zhi‐Ying

doi:10.1016/j.jns.2012.10.030

Cited by 8 publications

(5 citation statements)

References 22 publications

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“…However, the final genetic test confirmed a diagnosis of SCA3, which was quite different from the initial diagnosis. SCA3 has a wide range of clinical phenotypes, and many researchers believe that there are six clinical subtypes[ 10 - 12 ]. Our patient presented with slow progressive Parkinsonism and was sensitive to low-dose levodopa.…”

Section: Discussionmentioning

confidence: 99%

Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report

Zhang¹,

Li²,

Cheng³

et al. 2021

WJCC

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BACKGROUND Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disease with high genetic heterogeneity. SCA3 mainly manifests as progressive cerebellar ataxia accompanied by paralysis of extraocular muscles, dysphagia, lingual fibrillation, pyramidal tract sign, and extrapyramidal system sign. However, it rarely has clinical manifestations similar to Parkinson-like symptoms, and is even rarer in patients sensitive to dopamine. We report a patient initially diagnosed with dopamine-responsive dystonia who was ultimately diagnosed with SCA3 by genetic testing, which was completely different from the initial diagnosis. CASE SUMMARY A 40-year-old Chinese woman was admitted to hospital due to severe inflexibility. At the beginning of the disease, she presented with anxiety and sleep disorder. At the later stage, she presented with gait disorder, which was similar to Parkinson's disease. Her medical history was unremarkable, but her mother, grandmother, and uncle all had similar illnesses and died due to inability to take care of themselves and related complications. Laboratory and imaging examinations showed no abnormalities, but electromyography and electroencephalography revealed delayed somatosensory evoked potentials and slow background rhythm, respectively. Her symptoms fluctuated during the daytime, and we initially diagnosed her with dopamine-responsive dystonia. After treatment with low-dose levodopa, the patient’s symptoms were significantly improved, but the final genetic diagnosis was SCA3. CONCLUSION SCA3 has various clinical phenotypes and needs to be differentiated from Parkinson's syndrome and dopamine-responsive dystonia.

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Section: Discussionmentioning

confidence: 99%

Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report

Zhang¹,

Li²,

Cheng³

et al. 2021

WJCC

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“…Parkinsonism is often seen in SCA2 (SCA2-P). Compared with cerebellar ataxia type (SCA2-A), the SCA2 is associated with a mild CAG repeat expansion (32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) usually interrupted by a CAA repeat (47). The SCA2-A harbored a CAG expansion without CAA interruption (48,49).…”

Section: Adca Typementioning

confidence: 99%

“…Subsequent studies described five subtypes: type 4 comprising a Parkinsonian triad, type 5 including spastic paraparesis, type 6 manifesting pure cerebellar ataxia and type 7 associated with a mixed form of ataxia and levodopa responsive Parkinsonism . Other rare manifestations have been reported, including retinal degeneration, complicated hereditary spastic paraplegia, stiff‐person syndrome, motor neuronal disease, akathisia, verbal fluency and visual memory deficits, dystonia, involuntary movement combined with memory decline, and hearing loss . However, no significant difference was found between these sub‐phenotypes and CAG repeat expansions .…”

Section: Adca Typementioning

confidence: 99%

Spinocerebellar ataxia: relationship between phenotype and genotype – a review

2016

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Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the clinical manifestations or genetic nosology. To date, 40 SCAs have been characterized, and include SCA1-40. The pathogenic genes of 28 SCAs were identified. In recent years, with the widespread clinical use of next-generation sequencing, the genes underlying SCAs, and the mutants as well as the affected phenotypes were identified. These advances elucidated the phenotype-genotype relationship in SCAs. We reviewed the recent clinical advances, genetic features and phenotype-genotype correlations involving each SCA and its differentiation. The heterogeneity of the disease and the genetic diagnosis might be attributed to the regional distribution and clinical characteristics. Therefore, recognition of the phenotype-genotype relationship facilitates genetic testing, prognosis and monitoring of symptoms.

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“…There are hundreds of different forms of hereditary ataxia, 1 and more than 40 types of spinocerebellar ataxia (SCA), each caused by mutation at a different genetic locus. 2,3 The clinical features of the various SCAs are heterogeneous, 4 and can vary considerably even within the same family. 5 Diagnosis of the specific SCA is required for establishing prognosis, genetic counseling, management, and potential treatment.…”

Section: Introductionmentioning

confidence: 99%

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

Mitchell

LaTouche

Nelson

et al. 2019

Tremor and Other Hyperkinetic Movements

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BackgroundDystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions.Case reportWe describe a 10-year-old girl with SCA3, who presented with tongue dystonia in addition to limb dystonia and gait ataxia due to a heterozygous expansion of 84 repeats in ATXN3.DiscussionDiagnosis of the SCAs can be challenging, and even more so in children. Tongue dystonia has not previously been documented in SCA3.

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Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms

Cited by 8 publications

References 22 publications

Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report

Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report

Spinocerebellar ataxia: relationship between phenotype and genotype – a review

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

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