Results 1 to 10 of about 28,682 (142)

A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease

Advanced Biomedical Research, 2023
Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood.
Narges Zare, Hosein Saneian, Majid Khademian   +2 more
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Hereditary ataxias: spinocerebellar ataxia type 2 (clinical case)

Актуальные проблемы теоретической и клинической медицины, 2022
This article will present a clinical case of a patient with hereditary spinocerebellar ataxia type 2 (SCA-type 2). Spinocerebellar ataxia is a group of hereditary progressive cerebellar ataxias, numbering over 40 subspecies, manifested in the form of ...
I. Em
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Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia

Journal of Veterinary Internal Medicine, 2023
Background KCNJ10 and CAPN1 variants cause “spinocerebellar” ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
An Vanhaesebrouck, Mario Van Poucke, Kimberley Stee, Nicolas Granger, Edward Ives, Iris Van Soens, Ine Cornelis, Kenny Bossens, Luc Peelman, Luc Van Ham, Sofie F. M. Bhatti   +10 more
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Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Journal of Medical Case Reports, 2023
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel   +4 more
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Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature

Frontiers in Human Neuroscience, 2023
The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family ...
Shuling Chen, Siyu Li, Ying Liu, Renyi She, Wei Jiang   +4 more
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A Case of Orthognathic Surgery for Jaw Deformity in a Patient with Spinocerebellar Ataxia

Plastic and Reconstructive Surgery, Global Open, 2022
Summary:. Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disease that can cause various ataxia symptoms. Here we report a patient with spinocerebellar ataxia who underwent orthognathic surgery to correct a mandibular protrusion with ...
Marika Sato, DDS, PhD, Yoko Kawase-Koga, DDS, PhD, Hayato Hamada, DDS, PhD, Daichi Chikazu, DDS, PhD   +3 more
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Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa   +6 more
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Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function

Arquivos de Neuro-Psiquiatria, 2013
OBJECTIVES: To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3 ...
Carolina Yuri P. Aizawa, Jose Luiz Pedroso, Pedro Braga-Neto, Marilia Rezende Callegari, Orlando Graziani Povoas Barsottini   +4 more
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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Orphanet Journal of Rare Diseases, 2012
Background Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy.
Huang Lijia, Chardon Jodi, Carter Melissa T, Friend Kathie L, Dudding Tracy E, Schwartzentruber Jeremy, Zou Ruobing, Schofield Peter W, Douglas Stuart, Bulman Dennis E, Boycott Kym M   +10 more
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A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

Journal of Veterinary Internal Medicine, 2014
Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years.
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel   +8 more
doaj   +1 more source