Publications by authors named "Frederic A M Hennekam"
Article Synopsis
- Rupture of intracranial aneurysms causes a severe stroke known as aneurysmal subarachnoid hemorrhage, with many genetic factors behind their development still unclear.* -
- Researchers investigated three large Dutch families with multiple IA cases and discovered six rare damaging genetic variants associated with IA in one family.* -
- Although the identified variants did not correlate with IA status in a larger patient cohort, genes FMNL2 and TBC1D2 were highlighted for their potential significance in understanding IA development.*
A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.
Parkinsonism Relat Disord
November 2020
Introduction: This study reports a large series of patients with a clinical picture dominated by spastic paraplegia in whom variants in the NEFL gene, a known cause for Charcot-Marie-Tooth disease, were identified.
Methods: Index patients referred for a suspicion of hereditary spastic paraplegia (HSP) were clinically assessed and genetic analysis by next-generation sequencing was undertaken. Additional family members were clinically examined and subjected to targeted testing.
Background: Germline mutations in the gene encoding TERT cause haploinsufficiency with subsequent telomere shortening. TERT mutations are associated with short telomere syndromes, such as pulmonary fibrosis (PF), which is often the first manifestation of a short telomere syndrome. Telomere length is heritable, and progeny of telomerase mutation carriers are known to have shorter telomeres.
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