Cargando…

Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?

BACKGROUND: Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph Disease (MJD) is characterized by cerebellar, central and peripheral symptoms, including movement disorders. Dystonia can be classified as hereditary and neurodegenerative when present in SCA3. OBJECTIVE: The objective of this study...

Descripción completa

Detalles Bibliográficos
Autores principales:	Catai, Ligia Maria Perrucci, Camargo, Carlos Henrique Ferreira, Moro, Adriana, Ribas, Gustavo, Raskin, Salmo, Teive, Hélio Afonso Ghizoni
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bentham Open 2018
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008980/ https://www.ncbi.nlm.nih.gov/pubmed/30008965 http://dx.doi.org/10.2174/1874205X01812010041

Ejemplares similares

Muscle Cramps Profile among Spinocerebellar Ataxias
por: Franklin, Gustavo Leite, et al.
Publicado: (2022)

Cognitive impairment in Spinocerebellar ataxia type 10
por: Moro, Adriana, et al.
Publicado: (2016)

Neuroradiological Findings in the Spinocerebellar Ataxias
por: Meira, Alex Tiburtino, et al.
Publicado: (2019)

Cognitive dysfunction in spinocerebellar ataxias
por: Teive, Helio Afonso Ghizoni, et al.
Publicado: (2009)

Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease
por: Hernandez-Castillo, Carlos R., et al.
Publicado: (2017)

Pain Relief in Cervical Dystonia with Botulinum Toxin Treatment
por: Camargo, Carlos Henrique Ferreira, et al.
Publicado: (2015)

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia
por: Gan, Shi-Rui, et al.
Publicado: (2010)

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
por: de Assis, Adriano M., et al.
Publicado: (2017)

Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3)
por: Stallworth, Jeannette Y., et al.
Publicado: (2022)

Nonmotor symptoms in spinocerebellar ataxias (SCAs)
por: Moro, Adriana, et al.
Publicado: (2019)

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families
por: Teive, Hélio A. G., et al.
Publicado: (2012)

Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease
por: González-Zaldívar, Yanetza, et al.
Publicado: (2015)

Functionality and disease severity in spinocerebellar ataxias
por: da CRUZ, Geanison Castro, et al.
Publicado: (2022)

Spinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study
por: SONG, YANMIN, et al.
Publicado: (2015)

The evaluation of swallowing in patients with spinocerebellar ataxia and oropharyngeal dysphagia: A comparison study of videofluoroscopic and sonar doppler
por: Abdulmassih, Edna Márcia da Silva, et al.
Publicado: (2013)

Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado–Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies
por: Chen, Yu-Shuan, et al.
Publicado: (2020)

T2-hyperintensity in the internal globus pallidus in Machado-Joseph disease
por: Meira, Alex T., et al.
Publicado: (2023)

Is Ataxia an Underestimated Symptom of Huntington's Disease?
por: Franklin, Gustavo L., et al.
Publicado: (2020)

The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples
por: Duarte Lobo, Diana, et al.
Publicado: (2020)

Otoneurological Abnormalities in Patients with Friedreich's Ataxia
por: Zeigelboim, Bianca Simone, et al.
Publicado: (2016)

Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease
por: Miranda, Catarina Oliveira, et al.
Publicado: (2022)

Spinocerebellar Ataxia 28 Presenting as Predominantly Generalized Dystonia
por: Raj, Jidhin, et al.
Publicado: (2021)

Use of botulinum toxin for movement disorders
por: Camargo, Carlos Henrique Ferreira, et al.
Publicado: (2019)

Familial spontaneous pneumothorax and Machado–Joseph disease
por: Pelayo, Jerald, et al.
Publicado: (2020)

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients
por: Camargo, Carlos Henrique F., et al.
Publicado: (2014)

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10
por: White, Misti C., et al.
Publicado: (2010)

Frontal ataxia: historical aspects and clinical definition
por: Bonilha, Patrícia Áurea Andreucci Martins, et al.
Publicado: (2023)

Cerebellar Rotation Abnormalities Observed in Machado-Joseph Disease
por: Nomura, Taichi, et al.
Publicado: (2020)

Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease
por: Ferreira, Ana F., et al.
Publicado: (2023)

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
por: Mitchell, Nester, et al.
Publicado: (2019)

Machado-Joseph Disease: from first descriptions to new perspectives
por: Bettencourt, Conceição, et al.
Publicado: (2011)

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment
por: Onofre, Isabel, et al.
Publicado: (2016)

Trehalose alleviates the phenotype of Machado–Joseph disease mouse models
por: Santana, Magda M., et al.
Publicado: (2020)

Profiling Microglia in a Mouse Model of Machado–Joseph Disease
por: Campos, Ana Bela, et al.
Publicado: (2022)

Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia
por: Woo, Kyung Ah, et al.
Publicado: (2019)

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
por: Chelban, Viorica, et al.
Publicado: (2018)

Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report
por: Zhang, Xiao-Le, et al.
Publicado: (2021)

Sensory ataxia-plus secondary to cervical spondylotic myelopathy
por: Barros, Nagyla Aparecida, et al.
Publicado: (2023)

Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic Ataxia
por: Zeigelboim, Bianca Simone, et al.
Publicado: (2020)

Clinical manifestations and gene mutation in a case of Machado-Joseph disease★
por: Zhang, Bin, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_0m76lu8h6mt3pm583jj7g3tobk