Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration
AbstractNegative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat protein expressed by microglia and perivascular macrophages. To date, 9 individuals have been reported with biallelic NRROS variants. Here, we report one individual with a severe neurodegenerative phenotype in which exome sequencing identified 2 novel variants inNRROS, a missense variant (c.185T>C, p.Leu62Pro) and a premature stop codon (c.310C>T, p.Gln104Ter). Pathological examination revealed both extensive grey and white matter involvement, dystrophic calcifications, and infiltration of foamy macrophages. This is the first rep...
Source: Neurogenetics - January 31, 2022 Category: Genetics & Stem Cells Source Type: research
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
We present 4 patients from 2 families with a BHC phenotype, 3 of whom underwent targeted pituitary MR imaging and genetic testing. All four patients in the two families displayed a classic BHC phenotype. The targeted pituitary MR imaging demonstrated abnormal pituitary sella morphology. Genetic testing was performed in three patients, and showed mutations causing BHC in three of the patients, as well as identifying a novel nonsense mutation of the TITF1/NKX2-1 gene in one of the patients. The presence of the abnormal pituitary sella in two affected members of the same family supports the hypothesis that this sign is a dist...
Source: Neurogenetics - January 25, 2022 Category: Genetics & Stem Cells Source Type: research
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
AbstractHereditary spastic paraplegia (HSP) refers to a group of genetic disorders characterized by progressive weakness and stiffness in the muscles of the legs. To date, more than 83 types of HSP exist, differing in their etiology, their degree of severity, and the nature of symptoms associated with each of these conditions. Owing to their genetic and clinical heterogeneity, the establishment of an accurate diagnosis can be very challenging, especially with the clinical overlap observed between those conditions and other neurogenetic diseases. A 7-year-old girl, born to a consanguineous Iraqi family, was referred to us f...
Source: Neurogenetics - January 18, 2022 Category: Genetics & Stem Cells Source Type: research
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
We report a case of a 47-year-old Caucasian man with a 2-year history of muscle atrophy and weakness in both hands associated with p yramidal signs and mild spasticity in the lower limbs. An extensive work-up led this motor neuron disease-like disorder to be diagnosed as adult-onset KD. The patient was found to be compound heterozygous for two GALC mutations (p.G286D and p.Y490N). These two rare missense mutations have previously been reported with other heterozygous mutations. However, their co-occurrence in a KD patient is novel. From the perspective of this case, we review the current literature on compound heterozygous...
Source: Neurogenetics - January 10, 2022 Category: Genetics & Stem Cells Source Type: research
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
We described two LGMD-R7 patients presenting a classical LGMD phenotype and a novel homozygousTCAP mutation. Our research expands the spectrum of LGMD-R7 due toTCAP mutations based on patients from a Chinese neuromuscular center. (Source: Neurogenetics)
Source: Neurogenetics - January 4, 2022 Category: Genetics & Stem Cells Source Type: research
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
The affiliation of author Robert Jech was incorrectly indicated in the originally published version of this paper. (Source: Neurogenetics)
Source: Neurogenetics - December 3, 2021 Category: Genetics & Stem Cells Source Type: research
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype
AbstractCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cerebral small vessel disease. It is caused by mutations in the NOTCH3 gene, which encodes a membranebound receptor protein with three main distinct functional domains. Thus far, several different NOTCH3 mutations, most of them cysteine altering variants, have been described and although they tend to cluster in certain exons, their distribution varies in different geographically populations. Therefore, in this study, we describe the mutation analysis of NOTCH3 gene in 24 Portuguese famil...
Source: Neurogenetics - December 1, 2021 Category: Genetics & Stem Cells Source Type: research
