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OBJECTIVE Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene responsible for one of the clinical and genetic entities, SPG15. Our aim was to describe its clinical and mutational spectra. METHODS We analyzed all exons of SPG15/ZFYVE26 gene by direct(More)
BACKGROUND Autosomal dominant early onset Alzheimer's disease (ADEOAD) is genetically heterogeneous. Mutations of the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes have been identified. OBJECTIVE To further clarify the respective contribution of these genes to ADEOAD. METHODS 31 novel families were investigated.(More)
BACKGROUND Familial co-occurrence of frontotemporal dementia and schizophrenia has never been investigated. AIMS To test the hypothesis that frontotemporal dementia and schizophrenia might have a common aetiology in some families in which both syndromes coexist (mixed families). METHOD The morbid risk for schizophrenia, calculated in first-degree(More)
Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have recently been reported. Diagnosing idiopathic basal ganglia calcification necessitates the exclusion of other causes, including(More)
Juvenile Huntington disease (JHD) is a rare clinical entity characterized by disease onset before the age of 21. JHD accounts for <10% of Huntington disease patients. Transmission of JHD is paternal in 80-90% of cases. Patients with JHD usually carry more than 60 CAG repeats within the HTT gene. We report here on a 23-month-old boy presenting with global(More)
OBJECTIVES To identify a new idiopathic basal ganglia calcification (IBGC)-causing gene. METHODS In a 3-generation family with no SLC20A2 mutation, we performed whole exome sequencing in 2 affected first cousins, once removed. Nonsynonymous coding variants, splice acceptor and donor site variants, and frameshift coding indels (NS/SS/I) were filtered(More)
OBJECTIVES To evaluate disease progression and determine validity of clinical tools for therapeutic trials. DESIGN Prospective cohort study (36 months). SETTING Referral center. PATIENTS One hundred sixty-two patients with autosomal dominant cerebellar ataxia and 64 with hereditary spastic paraplegia. MAIN OUTCOME MEASURES The quantitative Composite(More)
We studied four members of a family suffering from typical attacks of familial hemiplegic migraine (FHM) caused by a new mutation, R548C, of ATP1A2 gene in exon 12. One individual had also childhood absence epilepsy and generalized tonic-clonic seizures (GTCS). GTCS were followed by a severe attack of hemiplegic migraine at four times. Sodium valproate(More)
Causative variants in APP, PSEN1 or PSEN2 account for a majority of cases of autosomal dominant early-onset Alzheimer disease (ADEOAD, onset before 65 years). Variant detection rates in other EOAD patients, that is, with family history of late-onset AD (LOAD) (and no incidence of EOAD) and sporadic cases might be much lower. We analyzed the genomes from 264(More)
Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and Abeta-related cerebral amyloid angiopathy (CAA). This study describes the phenotype of this new entity. Clinical, neuropsychological, imagery and neuropathological data were reviewed. The phenotype was not(More)