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Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in...
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Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. It is mostly sporadic, with the C9orf72 repeat expansion being the...
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Proteinopathies associated to repeat expansion disorders
The most common neurodegenerative disorders, such as Alzheimer’s or Parkinson’s diseases, are characterized by synaptic dysfunction, neuronal loss...
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Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington’s disease
Trinucleotide repeats (TNRs) are dispersed throughout the human genome. About 20 loci are related to human diseases, such as Huntington’s disease...
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NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders
The NOTCH2NLC gene 5′ untranslated region (UTR) GGC repeat expansion mutations were identified as a genetic contributor of neuronal intranuclear...
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Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort
An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG) 400–2000 , at AAAAG repeat locus in RFC1 gene, is known as underlying genetic...
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Clinical and neuroimaging review of triplet repeat diseases
Triplet repeat diseases (TRDs) refer to a group of diseases caused by three nucleotide repeats elongated beyond a pathologic threshold. TRDs are...
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Rediscovering tandem repeat variation in schizophrenia: challenges and opportunities
Tandem repeats (TRs) are prevalent throughout the genome, constituting at least 3% of the genome, and often highly polymorphic. The high mutation...
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RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
BackgroundA biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 ( RFC1 ) gene has been recently associated with Cerebellar...
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Vaulting further: cranial vault expansion for craniocerebral disproportion without primary craniosynostosis
PurposeTreatment of subjects with refractory idiopathic intracranial hypertension (IIH) or shunted hydrocephalus with chronic shunt complications is...
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Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions
Non-coding CGG repeat expansions cause multiple neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome, neuronal...
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Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia
Recently, an intronic biallelic (AAGGG) n repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations....
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RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile
ObjectivesThe cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients (“idiopathic”), although intronic GAA expansions...
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GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome
A genetic diagnosis cannot be made in a considerable proportion of patients with hereditary lower motor neuron (LMN) syndromes. The GGC repeat...
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Need for Repeat-Hospitalization in Very Low Birth Weight or Very Preterm Infants: A Prospective Cohort Study
ObjectiveTo determine the incidence of repeat-hospitalization amongst neonates with gestation <32 wk or birth weight <1500 g within 6 mo of birth.
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Repeat single-session stereotactic radiosurgery for arteriovenous malformation: a systematic review and meta-analysis
BackgroundStereotactic radiosurgery is the preferred option for treating brain arteriovenous malformation (AVM) when the risks associated with...
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Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China
Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external...
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Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease
Biallelic pathogenic repeat expansions in RFC1 were recently identified as molecular origin of cerebellar ataxia, neuropathy, vestibular areflexia...
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Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC
The GGC repeat expansions in the NOTCH2NLC gene are associated with multiple neurodegenerative disorders. Herein, we report the clinical phenotype in...
