Publications by authors named "A Dusser"
Objective: To assess nonparoxysmal movement disorders in mutation-positive patients with alternating hemiplegia of childhood (AHC).
Methods: Twenty-eight patients underwent neurologic examination with particular focus on movement phenomenology by a specialist in movement disorders. Video recordings were reviewed by another movement disorders specialist and data were correlated with patients' characteristics.
Article Synopsis
- - Multiple sulfatase deficiency is a rare genetic disorder caused by mutations in the SUMF1 gene, which often leads to delayed diagnoses. This study focused on analyzing clinical, biochemical, and molecular characteristics of ten patients to enhance understanding and treatment of the disease.
- - Researchers documented patient phenotypes and tracked long-term outcomes, revealing that severe cases often featured non-neurological symptoms and early psychomotor regression, alongside nine newly identified mutations in the SUMF1 gene.
- - Findings indicate that severe forms of the disease correlate with mutations that impact protein stability and function; however, there wasn't a consistent relationship between the remaining enzyme activity and the severity of symptoms, highlighting complex genotype-phenotype interactions.
Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb anomalies, and corpus callosum abnormalities. However, the precise relationship between most of deleted genes and the clinical features in these patients still remains unclear. We studied 11 unrelated patients with 1q44 microdeletion.
View Article and Find Full Text PDFMutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. Heterozygous females are affected while hemizygous males are spared, this unusual mode of inheritance being probably due to a mechanism called cellular interference. To extend the mutational and clinical spectra associated with PCDH19, we screened 150 unrelated patients (113 females) with febrile and afebrile seizures for mutations or rearrangements in the gene.
View Article and Find Full Text PDFBackground: Recent advances in the field of molecular genetics have provided useful tools for the diagnosis of neuromuscular disorders. Genetic counselling for many of these conditions may, however, be fraught with difficulties.
Case Report: The patient, two paternal uncles and a paternal aunt presented with clinical and electromyographic evidence of type III spinal muscular atrophy despite an autosomal dominant-like pedigree.