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Miranda, Javier; Cubo, Esther
Neurological sciences, 05/2022, Letnik: 43, Številka: 5Journal Article
Introduction Spinocerebellar ataxia type 3 (SCA-ATXN3) is a genetic neurodegenerative disease characterized by progressive cerebellar ataxia and other variable findings, including Parkinsonian syndrome. There is no disease-modifying treatment for SCA-ATXN3, so symptom-based management predominates. We aim to illustrate the disease’s phenotypic variability and describe the effectiveness of advanced therapies in Parkinsonian symptoms. Cases We present two patients with a predominant levodopa-responsive Parkinsonian phenotype, combined with cerebellar features. We achieved an optimal control of Parkinsonian symptoms with a carbidopa-levodopa intestinal gel infusion pump. Conclusions We should suspect an SCA-ATXN3 etiology in patients with syndromes resembling an early-onset Parkinson disease with an autosomal dominant pattern. These patients could benefit from anti-Parkinsonian treatments, including levodopa intestinal gel infusion pump.
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Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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