Publications by authors named "W H Raskind"
Article Synopsis
- - A rare genetic condition involving mitochondrial complex III deficiency and lactic acidosis, characterized by scalp alopecia, was identified in two unrelated cases and discussed further with a participant from the Undiagnosed Diseases Network (UDN).
- - The participant had two autosomal recessive disorders discovered through genome sequencing: mitochondrial complex III deficiency and cataracts, with specifics on previously documented pathogenic variants for each condition.
- - A combination of enzyme assays and cellular proteomics showed clear dysfunction in complex III and low levels of a crucial protein, validating the genetic mutations' pathogenic effects and broadening understanding of these rare disorders.
Dyslexia is a learning disability that negatively affects reading, writing, and spelling development at the word level in 5%-9% of children. The phenotype is variable and complex, involving several potential cognitive and physical concomitants such as sensory dysregulation and immunodeficiencies. The biological pathogenesis is not well-understood.
View Article and Find Full Text PDFBackground: Most published reports on SAMD9L-related ataxia-pancytopenia syndrome (ATXPC) have emphasized the hematologic findings. Fewer details are known about the progression of neurologic manifestations and methods for monitoring them.
Cases: We present six individuals from two families transmitting a heterozygous variant in SAMD9L, exhibiting clinical variations in their hematologic and neurologic findings.
Loss-of-function variants in the triggering receptor expressed on myeloid cells 2 (TREM2) are responsible for a spectrum of neurodegenerative disorders. In the homozygous state, they cause severe pathologies with early onset dementia, such as Nasu-Hakola disease and behavioural variants of frontotemporal dementia (FTD), whereas heterozygous variants increase the risk of late-onset Alzheimer's disease (AD) and FTD. For over half of TREM2 variants found in families with recessive early onset dementia, the defect occurs at the transcript level via premature termination codons or aberrant splicing.
View Article and Find Full Text PDFBackground: NOTCH3 is the causative gene for autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) which is associated with both stroke and dementia. When CADASIL presents primarily as dementia it can be difficult to distinguish from Alzheimer's disease (AD) at both the clinical and neuropathological levels.
Methods: We performed exome sequencing of several affected individuals from a large family affected with AD.