Cargando…

X-linked adrenoleukodystrophy presenting as progressive ataxia and pure cerebellar involvement

Detalles Bibliográficos
Autores principales:	de Moraes, Marianna Pinheiro Moraes, Rosa, Augusto Bragança Reis, Jaques, Cristina Saade, Marussi, Victor Hugo Rocha, Pedroso, José Luiz, Barsottini, Orlando Graziani
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Academia Brasileira de Neurologia - ABNEURO 2021
Materias:	Images in Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394550/ https://www.ncbi.nlm.nih.gov/pubmed/34161534 http://dx.doi.org/10.1590/0004-282X-ANP-2020-0294

Ejemplares similares

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
por: Tonholo Silva, Thiago Y., et al.
Publicado: (2021)

Conus medullaris syndrome in Vogt-Koyanagi-Harada disease: an unusual presentation
por: de Abrantes, Fabiano Ferreira, et al.
Publicado: (2022)

Rehabilitation in patients with cerebellar ataxias
por: Chien, Hsin Fen, et al.
Publicado: (2022)

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia
por: Chen, Ying-Hao, et al.
Publicado: (2017)

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome
por: Pedroso, José Luiz, et al.
Publicado: (2020)

PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
por: Rezende Filho, Flávio M., et al.
Publicado: (2021)

Diffuse leptomeningeal enhancement in neurosarcoidosis-related longitudinally extensive myelitis
por: Abrantes, Fabiano Ferreira de, et al.
Publicado: (2023)

Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives
por: da Graça, Felipe Franco, et al.
Publicado: (2019)

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
por: Beaudin, Marie, et al.
Publicado: (2019)

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

Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias?
por: Pedroso, José Luiz, et al.
Publicado: (2020)

Downbeat nystagmus and progressive ataxia in adults: consider Chiari malformation type 1
por: Massuyama, Breno Kazuo, et al.
Publicado: (2023)

What General Neurologists Should Know about Autoinflammatory Syndromes?
por: de Moraes, Marianna Pinheiro Moraes, et al.
Publicado: (2023)

Gait Difficulties and Postural Instability in Adrenoleukodystrophy
por: Godbole, Neha P., et al.
Publicado: (2021)

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
por: Novis, Luiz Eduardo, et al.
Publicado: (2023)

Cost of Cerebellar Ataxia in Hong Kong: A Retrospective Cost-of-Illness Analysis
por: Stanley, Winser John, et al.
Publicado: (2020)

Intestinal Surgery Contributes to Acute Cerebellar Ataxia Through Gut Brain Axis
por: Yu, Jie, et al.
Publicado: (2019)

Cerebellar Ataxia in the Setting of Hashimoto’s Thyroiditis: A Case Report Update and Review
por: Chiriboga Reyes, Gustavo, et al.
Publicado: (2023)

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
por: Wiethoff, Sarah, et al.
Publicado: (2016)

Isolated Cerebellar Involvement in X-linked Adrenoleukodystrophy
por: Mansoor, C. A.
Publicado: (2020)

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan
por: Ando, Masahiro, et al.
Publicado: (2022)

Hashimoto's encephalopathy with cerebellar ataxia as the main symptom: A case report and literature review
por: Wei, Chunxiao, et al.
Publicado: (2022)

Case report and literature analysis: Autoimmune cerebellar ataxia associated with homer-3 antibodies
por: Wu, Qisi, et al.
Publicado: (2022)

Effects of transcranial magnetic stimulation on cerebellar ataxia: A systematic review and meta-analysis
por: Wang, Ying, et al.
Publicado: (2023)

Repetitive transcranial magnetic stimulation for cerebellar ataxia: a systematic review and meta-analysis
por: Yin, Lianjun, et al.
Publicado: (2023)

Hot cross bun sign in a patient with cerebellar ataxia
por: Gooneratne, Inuka Kishara, et al.
Publicado: (2013)

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia
por: Famula, Jessica L., et al.
Publicado: (2018)

Extra-Cerebellar Signs and Non-motor Features in Chinese Patients With Spinocerebellar Ataxia Type 3
por: Yuan, Xiaoqin, et al.
Publicado: (2019)

Update in Autoimmune Movement Disorders: Newly Described Antigen Targets in Autoimmune and Paraneoplastic Cerebellar Ataxia
por: Garza, Madeline, et al.
Publicado: (2021)

Corrigendum: Case report and literature analysis: Autoimmune cerebellar ataxia associated with homer-3 antibodies
por: Wu, Qisi, et al.
Publicado: (2023)

Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation
por: Pedroso, José Luiz, et al.
Publicado: (2016)

A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction
por: Jung, Seunguk, et al.
Publicado: (2009)

Assessment and Rating of Motor Cerebellar Ataxias With the Kinect v2 Depth Sensor: Extending Our Appraisal
por: Honda, Takeru, et al.
Publicado: (2020)

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
por: Traschütz, Andreas, et al.
Publicado: (2021)

The “hot cross bun sign” in patients with autoimmune cerebellar ataxia: A case report and literature review
por: Liu, Mange, et al.
Publicado: (2022)

Case report: Anti septin-5-encephalitis as a treatable cause of cerebellar ataxia and psychiatric symptoms
por: Wischmann, Johannes, et al.
Publicado: (2023)

Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family
por: Kim, Minkyeong, et al.
Publicado: (2020)

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability
por: Choi, Jae-Hwan, et al.
Publicado: (2022)

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
por: Bonaventura, Eleonora, et al.
Publicado: (2023)

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia
por: Chen, Jia, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_n26qrtqceek68glmj48u82q5d3