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.
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.
Authors: K Gwinn-Hardy; J Y Chen; H C Liu; T Y Liu; M Boss; W Seltzer; A Adam; A Singleton; W Koroshetz; C Waters; J Hardy; M Farrer Journal: Neurology Date: 2000-09-26 Impact factor: 9.910
Authors: Esther Cubo; Mateo Diez López; Jon Infante Ceberio; Isabel Lanchas Alfonso; Begoña Miguel Martinez; José Berciano; Fernando Iglesias; José A Obeso Journal: J Neurol Date: 2010-08-31 Impact factor: 4.849
Authors: M P Socal; V E Emmel; C R M Rieder; A Hilbig; M L Saraiva-Pereira; L B Jardim Journal: Parkinsonism Relat Disord Date: 2008-11-05 Impact factor: 4.891