Results 61 to 70 of about 71,064 (224)

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Spinocerebellar ataxia : functional analysis of the stomatognathic system [PDF]

, 2019
Neurodegenerative diseases that affect the cerebellum, especially in elderly individuals, cause impairment of motor coordination and quality of life. The presente study evaluated the electromyographic activity and thickness of the right and left masseter
Arnoni, Veridiana, da Silva, Gabriel, Júnior, Wilson-Marques, Siéssere, Selma, Vasconcelos, Paulo, Hallak, Jaime, Palinkas, Marcelo, Ferreira, Bruno, Gonçalves, Ligia, Regalo, Isabela, Regalo, Simone   +10 more
core   +1 more source

Cognitive dysfunction in spinocerebellar ataxias [PDF]

Dementia & Neuropsychologia, 2009
Abstract Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia ...
Teive, Helio Afonso Ghizoni, Arruda, Walter Oleschko   +1 more
openaire   +5 more sources

Spinocerebellar ataxia-type 34: A case report and brief review of the literature

Radiology Case Reports, 2023
Neurodegenerative disorders are classified as a group of diseases with progressive loss of neurons secondary to aggregation of misfolded proteins.
Vivek Batheja, MD, Morgan Fish, DO, Aneri B. Balar, MD, Siddhi Hedge, MBBS, Jeffery P. Hogg, MD, FACR, Dhairya A. Lakhani, MD, Musharaf Khan, DO   +6 more
doaj   +1 more source

Remote Video Assessment of Ataxia via SARAhome: Correlation of Pose‐Derived Endpoints with Clinician Severity Ratings

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Remote assessment of ataxia is increasingly important for patient‐centered care and clinical research. SARAhome, a validated video‐based adaptation of the Scale for the Assessment and Rating of Ataxia (SARA), enables self‐administration of key motor tasks at home.
Rabia Aziza, Elisa Ferrer, Fereshteh Poursaeed, Vivian Maas, Jennifer Faber, Arian Taheri Amin, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether, Marcus Grobe‐Einsler   +17 more
wiley   +1 more source

Biomarkers in Spinocerebellar Ataxias

The Cerebellum
Abstract Biomarkers are defined as measures that indicate biological processes and responses to interventions. Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited, progressive diseases. As targeted therapies for SCAs are being developed, there is a great need for biomarkers for use in clinical trials. Molecular genetic tests are
Klockgether, Thomas, Grobe-Einsler, Marcus, Faber, Jennifer   +2 more
openaire   +3 more sources

Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia, Laura Kus, Erika Sipos, Nathaniel Heintz, Kert Mätlik   +4 more
wiley   +1 more source

Professor Wadia’s contributions to neurology and spinocerebellar ataxia type 2 [PDF]

, 2017
The authors present a historical review of the seminal contributions of Professor N.H. Wadia (1925-2016) to neurology, in particular, the first description of spinocerebellar ataxia type 2.Univ Fed Parana, Hosp Clin, Dept Med Interna, Serv Neurol,Unidade
Pedroso, Jose Luiz [UNIFESP], Teive, Helio A. G., Hélio A. G. Teive, Orlando G.P. Barsottini, Fernando Spina Tensini, José Luiz Pedroso, Tensini, Fernando Spina, Barsottini, Orlando G. P. [UNIFESP], Pedroso,José Luiz, Teive, Helio A.G., Pedroso, Jose Luiz, Barsottini, Orlando G.P., Tensini,Fernando Spina, Barsottini,Orlando G.P., Teive,Hélio A. G.   +14 more
core   +1 more source

Spinocerebellar ataxia-21 in a Turkish child

, 2018
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral ...
Faruk Incecik, Patrick Willems, Ozlem M Herguner, Neslihan O Mungan   +3 more
core   +2 more sources

Approaches to the treatment of autosomal-dominant spinocerebellar ataxias

Якутский медицинский журнал
The article is devoted to the prospects for the treatment of neurodegenerative diseases with dynamic mutations based on published studies of the search for approaches to the treatment of spinocerebellar ataxia.
S. K. Kononova
doaj   +1 more source