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Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
TLDR
Sequence analysis of DNA samples from patients representing different Alexander disease phenotypes revealed that most cases are associated with non-conservative mutations in the coding region of GFAP, the first example of a primary genetic disorder of astrocytes, one of the major cell types in the vertebrate CNS.
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
TLDR
The clinical phenotype of patients with a GJA12 mutation was evaluated and is overall comparable to the clinical features seen in mild forms of proteolipid protein 1 (PLP1) related disorder but with better cognition and earlier signs of axonal degeneration.
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
TLDR
Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic paralysis (IAHSP) is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on chromosome 2q33-35, and alsin mutations are responsible for a primitive, retrograde degeneration of the upper motor neurons of the pyramidal tracts.
Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations
TLDR
Clinical severity was found to be correlated with the nature of the mutation, suggesting a distinct strategy for detection of PLP point mutations between severe PMD, mild PMD and SPG.
X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus
TLDR
It appears that SPG2 and PMD are allelic disorders, and a point mutation in exon 3B of an affected male produces a mutant PLP but a normal DM20, and segregates with the disease.
The effect of genotype on the natural history of eIF2B-related leukodystrophies
TLDR
The degree of eif2B dysfunction, which is involved in the regulation of protein synthesis during cellular stress, may play a role in the clinical expression of eIF2B-related disorders.
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
TLDR
It is hypothesize that the decrease in POLR3A leads to dysregulation of the expression of certain Pol III targets and thereby perturbs cytoplasmic protein synthesis in leukoencephalopathies such as hypomyelinating leukodystrophy-3.
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus
TLDR
In three patients of two Cree families, a homozygous missense mutation resulting in a histidine substitution at arginine 195 of ε‐eIF2B is found in the brain of affected individuals.
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease
TLDR
Endogenous ALS2 is shown here to be enriched in nervous tissue and to be peripherally bound to the cytoplasmic face of endosomal membranes, an association that requires the amino-terminal “RCC1 (regulator of chromatin condensation)-like” GEF domain.
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
TLDR
Borderline microcephaly at birth, borderline-normal intellectual efficiency, and brain malformations can occur in ASPM-related primary hereditary microcePhaly due to ASPM gene mutations.
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