Cargando…

Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant

BACKGROUND: In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. HYPOTHESIS/OBJECTIVES: Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed. ANIMALS: Five affected Bouvier des Ardenne...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stee, Kimberley, Van Poucke, Mario, Pumarola, Martí, Geerinckx, Lise, Van Soens, Iris, Bhatti, Sofie F. M., Peelman, Luc, Cornelis, Ine
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	SMALL ANIMAL
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9889618/ https://www.ncbi.nlm.nih.gov/pubmed/36426918 http://dx.doi.org/10.1111/jvim.16594

Ejemplares similares

Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia
por: Vanhaesebrouck, An, et al.
Publicado: (2023)

Phenotypic and genetic aspects of hereditary ataxia in dogs
por: Stee, Kimberley, et al.
Publicado: (2023)

Paradoxical pseudomyotonia in English Springer and Cocker Spaniels
por: Stee, Kimberley, et al.
Publicado: (2019)

Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats
por: Van Poucke, Mario, et al.
Publicado: (2022)

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both
por: Gilliam, D., et al.
Publicado: (2014)

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
por: Huang, Lijia, et al.
Publicado: (2012)

Phenotypic characterization of paroxysmal dyskinesia in Maltese dogs
por: Polidoro, Dakir, et al.
Publicado: (2020)

Repetitive transcranial magnetic stimulation in drug‐resistant idiopathic epilepsy of dogs: A noninvasive neurostimulation technique
por: Charalambous, Marios, et al.
Publicado: (2020)

An understanding of spinocerebellar ataxia
por: Ramachandra, N.B., et al.
Publicado: (2015)

Parkinsonism in Spinocerebellar Ataxia
por: Park, Hyeyoung, et al.
Publicado: (2015)

Spinocerebellar ataxia: an update
por: Sullivan, Roisin, et al.
Publicado: (2018)

Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed
por: Forman, Oliver P., et al.
Publicado: (2013)

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia
por: Letko, Anna, et al.
Publicado: (2019)

Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5
por: Bian, Xianli, et al.
Publicado: (2021)

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
por: Huang, Lijia, et al.
Publicado: (2022)

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)
por: Mauri, Nico, et al.
Publicado: (2016)

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias
por: Gan, Shi-Rui, et al.
Publicado: (2017)

Puumala hantavirus Infection in Humans and in the Reservoir Host, Ardennes Region, France
por: Sauvage, F., et al.
Publicado: (2002)

Cell biology of spinocerebellar ataxia
por: Orr, Harry T.
Publicado: (2012)

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

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

Therapeutic Strategies for Spinocerebellar Ataxia Type 1
por: Kerkhof, Laurie M. C., et al.
Publicado: (2023)

Quantitative evaluation of upper limb ataxia in spinocerebellar ataxias
por: Kishimoto, Yoshiyuki, et al.
Publicado: (2022)

Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2
por: Dabla, Surekha, et al.
Publicado: (2022)

Genetics of Hereditary Ataxia in Scottish Terriers
por: Urkasemsin, G., et al.
Publicado: (2017)

Electrical resistivity tomography data across the Hockai Fault Zone (Ardenne, Belgium)
por: Lecocq, Thomas, et al.
Publicado: (2016)

Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia
por: Mohamed Ibrahim, Norlinah, et al.
Publicado: (2020)

Genetic and molecular aspects of spinocerebellar ataxias
por: Honti, Viktor, et al.
Publicado: (2005)

Decreasing fall risk in spinocerebellar ataxia
por: Santos de Oliveira, Laura Alice, et al.
Publicado: (2015)

Spinocerebellar ataxia-10 with paranoid schizophrenia
por: Trikamji, Bhavesh, et al.
Publicado: (2015)

Spinocerebellar Ataxia Type 31 with Blepharospasm
por: Itaya, Sakiko, et al.
Publicado: (2018)

Diagnosis of Spinocerebellar Ataxia in the West Indies
por: Yearwood, Ashley K., et al.
Publicado: (2018)

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

Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias
por: Robinson, Katherine J., et al.
Publicado: (2020)

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

Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar Ataxias
por: Moulaire, Paul, et al.
Publicado: (2022)

A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5
por: Liu, Li-Zhi, et al.
Publicado: (2016)

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy
por: van der Put, Johanna, et al.
Publicado: (2022)

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias
por: Buijsen, Ronald A.M., et al.
Publicado: (2019)

Puumala Virus Variants Circulating in Forests of Ardennes, France: Ten Years of Genetic Evolution
por: Castel, Guillaume, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_o15kdi9adodc1o173hkjmtr5si