Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.

Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature.

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Immunodeficiency and hemolytic uremic syndrome: a case report.

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.

MFSD8-Related CLN7 Disease with Adult-Onset Cerebellar Ataxia: A Five-Patient Case Series.

Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

Cochlear implantation in Childhood Ataxia with Central nervous system Hypomyelination Syndrome.

Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome.

Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.

Expanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.

CANVAS as example of genetic and clinical complexity of RFC1-related disorders.

Identification of a large homozygous RNF216 deletion in a Chinese patient with gordon holmes syndrome.

Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.

Cerebellar abiotrophy in a quarter horse foal.

Movement Disorders in Hereditary Cerebellar Ataxia.

A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.

Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.

Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.

Demystifying the Etiology of ILOCA in the Genomic Era: A Narrative Review.

Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.

PHARC syndrome: an overview.

EAST (Epilepsy, Ataxia, Sensorineural Hearing Loss, and Renal Tubulopathy) Syndrome: A Rare Association Between Brain, Ear, and Kidney.

The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Pseudodominance in RFC1-Spectrum Disorder.

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome).

Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.

Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Primary Coenzyme Q10 Deficiency-Related Ataxias.

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Bilateral vestibulopathy as the initial presentation of CANVAS.

An adolescent with Wolfram syndrome and central sleep apnea.

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

[Mevalonate kinase deficiency].

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.

Vestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.

Anesthetic Chalenges And Managment In Patient With Ataxia- Telangiectasia.

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.

The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature.

Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS).

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.

A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.

Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.

A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review.

Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.

Joubert syndrome: Molecular basis and treatment.

Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia.

A Case of Gillespie Syndrome With Atypical Presentation.

Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.

A Rare Phenotype of Inherited Cerebellar Ataxia.

Treatable Ataxias: How to Find the Needle in the Haystack?

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan.

Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment.

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation.

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family.

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.

Patient with ataxia telangiectasia undergoing elective staging laparoscopy: A case report and literature review.

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

[Central control malfunction in Wolfram syndrome: Report of one case of difficult weaning].

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.

Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.

Neuropsychological assessment of Boucher-Neuhäuser syndrome: A case report.

Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM.

Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.

Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.

Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.

Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.

Cerebrotendinous xanthomatosis revisited.

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings.

A hypomyelinating leukodystrophy in German Shepherd dogs.

Treatment of dental caries in a patient with Joubert syndrome without the use of sedatives: A case study.

Familial autoimmunity in neurological patients with GAD65 antibodies: an interview-based study.

Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation.

POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.

Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.

A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.

Role of Genetic Mutations of the Na+/H+ Exchanger Isoform 1, in Human Disease and Protein Targeting and Activity.

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.

Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.

Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.

Total Intravenous Anesthesia in Joubert Syndrome Patient for Otorhinolaryngology Surgery: A Case Report and Mini Review of the Literature.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.

[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia].

Spinocerebellar ataxia type 48: last but not least.

Expanding the clinical and genetic heterogeneity of SPAX5.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients.

Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.

Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability.

Reversible Mitochondrial Fragmentation in iPSC-Derived Cardiomyocytes From Children With DCMA, a Mitochondrial Cardiomyopathy.

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

Cerebellar ataxias: an update.

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.

Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.

Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy.

[Diagnostic algorithm for autosomal recessive ataxia].

ATP8A2-related disorders as recessive cerebellar ataxia.

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.

Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family.

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T.

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8.

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.

Joubert syndrome: A classic case.

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.

Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.

Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome.

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement.

Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.

ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.

Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population.

A new MRI marker of ataxia with oculomotor apraxia.

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Nystagmus And Beyond: A Rare Ocular Motility Disorder.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism.

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines.

The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia.

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.