Results 61 to 70 of about 83,390 (218)

Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia

Arquivos de Neuro-Psiquiatria, 2012
Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease.
José Luiz Pedroso, Pedro Braga-Neto, João Radvany, Orlando Graziani Povoas Barsottini   +3 more
doaj   +1 more source

Integrative approach improves fall risk and postural stability in spinocerebellar ataxia-2 – A case report

International Journal of Yoga, 2022
Spinocerebellar ataxias (SCAs) comprise a large heterogeneous group of autosomal dominant cerebellar ataxias. Despite availability of various conventional treatments, reducing disability and improving the quality of life is a challenge in this condition.
Kavyashree Kulamarva, Umesh Chikkanna, Kishore Kumar Ramakrishna, Hemant Bhargav, Selva Ganapathy Velayutham, Shivarama Varambally   +5 more
doaj   +1 more source

Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view

F1000Research, 2018
Spinocerebellar ataxias (SCAs) are rare types of cerebellar ataxia with a dominant mode of inheritance. To date, 47 SCA subtypes have been identified, and the number of genes implicated in SCAs is continually increasing.
Giulia Coarelli, A. Brice, A. Durr
semanticscholar   +1 more source

Spinocerebellar ataxia type 31

Rinsho Shinkeigaku, 2010
Spinocerebellar ataxia type 31 (SCA31) is a relatively common degenerative ataxia in Japan. We recently discovered SCA31 mutation as a complex pentanucleotide repeat containing (TAAAA)(n), (TAGAA)(n), and (TGGAA)(n). The size of this repeat ranged from 2.8 to 3.5 kilo-base pairs (kb).
Kinya, Ishikawa, Nozomu, Sato, Yusuke, Niimi, Takeshi, Amino, Hidehiro, Mizusawa   +4 more
openaire   +3 more sources

Cerebellar ataxias and functional movement disorders: navigating clinical overlap

BMJ Neurology Open
Background Functional movement disorders (FMDs) are commonly classified along canonical non-ataxic movement disorder patterns, creating a potential blind spot for frequently observed ataxia-like presentations. At the same time, normal diagnostic findings
Stoyan Popkirov, Dagmar Timmann, Christel Depienne, Friedrich Erdlenbruch, Andreas Thieme   +4 more
doaj   +1 more source

Spinocerebellar Ataxia

Pediatric Neurology Briefs, 1988
The onset below 15 years of age of autosomal dominant spinocerebellar ataxia (SCA) in 6 of 41 affected patients is reported from the Dept of Pediatrics, Baylor College of Medicine, Houston, TX.
openaire   +3 more sources

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Protocolo de procesamiento de electrooculogramas para la evaluación y el seguimiento de pacientes con Ataxia Espinocerebelosa tipo 2

Informática y Sistemas, 2017
The analysis of eye movements is an useful tool to evaluate various neurological disfunctions, among them is the Spinocerebellar Ataxia Type 2 (SCA2).
Roberto A. Becerra García, Gonzalo Joya Caparros, Luis Velázquez Pérez   +2 more
doaj   +1 more source

Unique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7

NeuroImage: Clinical, 2018
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that selectively affect vulnerable neuronal populations in the cerebellum and other subcortical regions.
C. Hernandez-Castillo, Maedbh King, J. Diedrichsen, J. Fernández-Ruíz   +3 more
semanticscholar   +1 more source

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source