Cargando…

Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease

OBJECTIVES: To describe clinical and genetic findings in 2 siblings with slowly progressive ataxia. METHODS: We studied 2 adult siblings through detailed physical and instrumental examinations. Whole-exome sequencing was used to identify an underlying genetic cause. RESULTS: Both siblings presented...

Descripción completa

Detalles Bibliográficos
Autores principales:	Burnyte, Birute, Vilimiene, Ramune, Grigalioniene, Kristina, Adomaitiene, Irina, Utkus, Algirdas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2023
Materias:	Clinical/Scientific Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088641/ https://www.ncbi.nlm.nih.gov/pubmed/37057294 http://dx.doi.org/10.1212/NXG.0000000000200068

Ejemplares similares

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
por: Grigalionienė, Kristina, et al.
Publicado: (2023)

Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
por: Grigalionienė, Kristina, et al.
Publicado: (2022)

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
por: Malcorps, Matilde, et al.
Publicado: (2022)

Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
por: Ng, Peng Soon, et al.
Publicado: (2019)

Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy
por: Takahashi, Yuji, et al.
Publicado: (2016)

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants
por: Rucheton, Benoit, et al.
Publicado: (2021)

Paraneoplastic cerebellar ataxia with central hypoventilation
por: Kunchok, Amy, et al.
Publicado: (2016)

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

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases
por: Ruzgienė, Dovilė, et al.
Publicado: (2021)

Clinical, cytogenetic and molecular study of a case of ring chromosome 10
por: Čiuladaitė, Živilė, et al.
Publicado: (2015)

Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?
por: Ekkert, Aleksandra, 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)

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
por: O’Connor, Emer, et al.
Publicado: (2018)

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia
por: Tojima, Maya, et al.
Publicado: (2018)

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

Cerebellar ataxia as a presenting symptom in a patient with anti-NMDA receptor encephalitis
por: Poorthuis, Michiel H.F., et al.
Publicado: (2019)

SEZ6L2 Antibody–Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy
por: Mehdiyeva, Ayla, et al.
Publicado: (2022)

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra
por: Peciuliene, Skaiste, et al.
Publicado: (2016)

SCA8 should not be tested in isolation for ataxia
por: Roda, Ricardo H., et al.
Publicado: (2017)

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

Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant
por: Paucar, Martin, et al.
Publicado: (2021)

Peripheral Neuropathy Evaluations of Patients With Prolonged Long COVID
por: Oaklander, Anne Louise, et al.
Publicado: (2022)

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report
por: Aleksiūnienė, Beata, et al.
Publicado: (2017)

Ataxia and Diplopia: A New SCN8A-Related Phenotype
por: Laliberté, Alexandra, et al.
Publicado: (2023)

Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study
por: Grigaitė, Julija, et al.
Publicado: (2021)

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report
por: Siavrienė, Evelina, et al.
Publicado: (2021)

A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia
por: Abitbol, Marie, et al.
Publicado: (2022)

Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy
por: Roberts, Leslie J., et al.
Publicado: (2022)

Neuromyelitis optica phenotype associated with therapy-responsive acute peripheral neuropathy
por: Feyissa, Anteneh M., et al.
Publicado: (2015)

Implementation and Evaluation of Preimplantation Genetic Testing at Vilnius University Hospital Santaros Klinikos
por: Stukaitė-Ruibienė, Eglė, et al.
Publicado: (2022)

Cerebellar vermis hypermetabolism in opsoclonus myoclonus without onconeural antibodies
por: Legouy, Camille, et al.
Publicado: (2015)

Episodic ataxia in CASPR2 autoimmunity
por: López Chiriboga, A. Sebastian, et al.
Publicado: (2018)

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation
por: Siavrienė, Evelina, et al.
Publicado: (2022)

Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS)
por: Dupré, Mathieu, et al.
Publicado: (2020)

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
por: Kocoglu, Cemile, et al.
Publicado: (2018)

Spinocerebellar ataxia type 10 in Chinese Han
por: Wang, Kang, et al.
Publicado: (2015)

Expanding the ataxia with oculomotor apraxia type 4 phenotype
por: Paucar, Martin, et al.
Publicado: (2016)

Expanding the global prevalence of spinocerebellar ataxia type 42
por: Ngo, Kathie, et al.
Publicado: (2018)

White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia
por: Tiet, May Yung, et al.
Publicado: (2021)

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

Cannot write session to /tmp/vufind_sessions/sess_vj566g785gi08bl1jums8ethve