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更新于：2025-05-07

Spinocerebellar Ataxia 27

脊髓小脑性共济失调27型

更新于：2025-05-07

基本信息

别名

CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, FGF14-RELATED、Cerebellar ataxia, autosomal dominant, FGF14-related、SCA27

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简介

Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare.

关联

项与脊髓小脑性共济失调27型相关的临床试验

NCT01793168

/ RecruitingN/A

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

开始日期2010-07-01

申办/合作机构

Sanford Health Corp.

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100 项与脊髓小脑性共济失调27型相关的临床结果

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100 项与脊髓小脑性共济失调27型相关的转化医学

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0 项与脊髓小脑性共济失调27型相关的专利（医药）

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项与脊髓小脑性共济失调27型相关的文献（医药）

2025-04-01·Neurology Genetics

Involvement of the Superior Cerebellar Peduncles in GAA- FGF14 Ataxia

Article

作者: Brais, Bernard ; Renaud, Mathilde ; Nalini, Atchayaram ; Pellerin, David ; Sakalla, Rawan ; Danzi, Matt C. ; Marco De Lucas, Enrique ; Zuchner, Stephan ; Indelicato, Elisabetta ; Synofzik, Matthis ; Ashton, Catherine ; Sutil Berjon, Rodrigo ; La Piana, Roberta ; Chen, Shihan ; Houlden, Henry ; Dicaire, Marie-Josée ; Bonnet, Céline ; Duquette, Antoine ; Kulanthaivelu, Karthik ; Bender, Benjamin ; Boesch, Sylvia M. ; Iruzubieta Agudo, Pablo ; Infante Ceberio, Jon ; Planel, Sophie ; Ruiz-Martinez, Javier ; Lamont, Phillipa J. ; Clement, Guillemette

ObjectivesGAA-FGF14 ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the FGF14 gene. After the clinical observation of superior cerebellar peduncle (SCP) involvement in some affected patients, we sought to verify the prevalence of this finding in our cohort and 4 additional independent cohorts of patients with SCA27B.MethodsWe performed a retrospective review of the brain MRI scans of a total of 87 patients (median age at MRI 69 years; range 28-88 years) from different independent cohorts to assess the presence of SCP involvement, defined as abnormally high T2 signal along the SCP tract.ResultsWe observed SCP involvement in 52 patients (52/87; 59.8%) from all the cohorts combined. The finding was replicated at rates ranging from 50% to 62.8% in the cohorts taken separately.DiscussionSCP involvement in SCA27B is frequent. Its detection may facilitate the diagnostic process of patients with SCA27B.

2025-02-01·Movement Disorders

The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non‐kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient

Article

作者: Yeşilyurt, Ahmet ; Houlden, Henry ; Pellerin, David ; Zuchner, Stephan ; Başak, Ayşe Nazlı ; Tekgül, Şeyma ; Smolina, Natalia ; Brais, Bernard ; Gül, Tuğçe ; Türkdoğan, Dilşad

AbstractBackgroundATX‐FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances.ObjectivesThis study describes the first case of ATX‐FGF/SCA27A linked to a biallelic frameshift variant in the FGF14 gene.MethodsWhole‐exome sequencing (WES) was conducted using the Illumina NovaSeq 6000 platform, and the identified variant was confirmed using Sanger sequencing.ResultsWe report the first case of autosomal recessive FGF14‐related cerebellar ataxia caused by a c.75del variant resulting in p.Leu26Serfs*51 truncation of the FGF14 protein. This variant was found in a patient born to consanguineous parents and presented with a complex congenital nonprogressive cerebellar disorder accompanied by neurodevelopmental delay, intellectual disability, and prominent drug‐responsive paroxysmal non‐kinesigenic dyskinesia. Segregation analysis confirmed that the homozygous variant was inherited from heterozygous parents who developed mild gait ataxia and tremor in their 40s.ConclusionsBiallelic loss‐of‐function variants in FGF14 are a rare cause of inherited cerebellar ataxia and expand the current genetic spectrum of ATX‐FGF14. © 2024 International Parkinson and Movement Disorder Society.

2025-01-01·Journal of Neurology

How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case–control study

Article

作者: Ory-Magne, Fabienne ; Rascol, Olivier ; Traon, Anne Pavy-le ; Bastos, Paulo ; Renaud, Mathilde ; Wandzel, Marion ; Bonnet, Cecile ; Roth, Virginie ; Pinheiro-Barbosa, Raquel ; Bonneville, Fabrice ; Leung, Clémence ; Cissé, Cheick ; Fabbri, Margherita ; Kermorgant, Marc

BACKGROUNDSpinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C).OBJECTIVESTo pinpoint which clinical signs and symptoms best discriminate between FGF14 + from FGF14 - patients at symptoms' onset.METHODSTwenty SCA27B (≥ 250 GAA repeat expansion) patients were retrospectively matched by gender and age at disease onset with 20 negative FGF14 (-) LOCA patients and with 20 MSA-C patients. Clinical features were ranked based on their contribution towards distinguishing between the groups (feature importance ranking).RESULTSSCA27B patients had significantly higher rates of episodic symptoms, cerebellar oculomotor signs, dysdiadochokinesia, and alcohol intolerance than LOCA-FGF14 - ataxia patients. The lack of autonomic symptoms and MRI signs in SCA27B patients were the most discriminating features from MSA-C. An AUC of 0.87 was obtained if using the "top 3 clinical features model" (episodic symptoms, cerebellar oculomotor signs and dysdiadochokinesia) to distinguish SCAB27 from LCOA FGF14 - . Regarding MRI findings, no significant differences were found between SCA27B and FGF14 - patients, while a positive hot cross buns sign and the presence of brainstem atrophy were key distinguishing features between SCA27B from MSA-C patients (p < 0.005).CONCLUSIONOur pilot case-control study contributes to the identification of early clinical symptoms to differentiate SCA27B to LOCA patients including FGF14- and MSA-C ones. From a feature perspective, while clinical features are crucial, identifying surrogate biomarkers-such as ocular or gait parameters-could aid in the early diagnosis and follow-up of SCA27B patients.

项与脊髓小脑性共济失调27型相关的新闻（医药）

2023-11-30

·BioSpace

Expanded STR Detection Capability Enables Variantyx to Diagnose Additional Genetic Disorders

FRAMINGHAM, Mass.--(BUSINESS WIRE)-- Variantyx, a leader in genomic precision medicine, today announced that the set of short tandem repeat (STR) expansions detected by its Genomic Unity® line of whole genome-based tests has been expanded. With these additions, Variantyx becomes one of the first laboratories to offer testing for two recently characterized ataxia variants: the biallelic AAGGG expansion in RFC1 that causes cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and the monoallelic, deep intronic GAA expansion in FGF14 that causes spinocerebellar ataxia 27B (SCA27B). “Short tandem repeat gene analysis and interpretation has always been challenging in clinical diagnostics,” said Christine Stanley, PhD, FACMG, Chief Director of Clinical Genomics at Variantyx. “Because the entire genome is sequenced, Genomic Unity® testing has the ability to detect a broader range of STRs from a single sample compared to targeted technologies utilized by other laboratories. At Variantyx we’re committed to continually extending the detection capabilities of our whole genome-based platform and are pleased to now be able to provide extended analysis and interpretation of STRs which is expected to result in additional diagnostic answers for patients.” The product line now analyzes an industry-leading 37 repeat expansions, collectively enabling the genetic diagnosis of late-onset neuropathies, neuromuscular disorders and movement disorders - particularly ataxias - as well as early-onset disorders, including those with symptoms of epilepsy and intellectual disability. The additional detection capabilities are automatically included in all Genomic Unity® comprehensive analyses and relevant targeted analyses. About Variantyx Variantyx is an award-winning, technology-driven precision medicine company providing disruptive solutions for the genetic disorders, reproductive health, and precision oncology markets. The proprietary whole genome analysis platforms developed by Variantyx allow clinicians and patients to better understand a person’s genetic makeup, leading to unmatched diagnostic capabilities and improved personalized treatment recommendations. For more information, please visit . View source version on businesswire.com: Contacts Haim Neerman Haim.neerman@variantyx.com (617) 209-2090 Source: Variantyx View this news release online at:

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