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Multiple system atrophy: A review of 203 pathologically proven cases
TLDR
Characteristic glial and/or neuronal cytoplasmic inclusions were identified in all cases in which they were sought, irrespective of clinical presentation, and an association of postural hypotension with intermediolateral cell column degeneration was confirmed.
Development and validation of the Unified Multiple System Atrophy Rating Scale (UMSARS)
TLDR
The UMSARS appears to be a multidimensional, reliable, and valid scale for semiquantitative clinical assessments of MSA patients.
Epidemiology of restless legs syndrome in French adults
TLDR
Restless legs syndrome (RLS) is often underdiagnosed and few subjects receive recommended RLS drug treatment, and the prevalence decreases after the age of 64.
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
TLDR
This work has identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function that alters phosphate export, implicating X PR1 and phosphate homeostasis in PFBC.
Presentation, diagnosis, and management of multiple system atrophy in Europe: Final analysis of the European multiple system atrophy registry
TLDR
This largest clinical series of MSA patients reported so far shows that the disease presents uniformly across Europe, and the observed differences in diagnostic and therapeutic management including lack of therapy for dysautonomia emphasize the need for future guidelines in these areas.
Routine MRI for the differential diagnosis of Parkinson's disease, MSA, PSP, and CBD
TLDR
It is demonstrated that a simple MRI scoring procedure may help the neurologist to differentiate primary causes of parkinsonism in everyday practice.
McLeod neuroacanthocytosis: Genotype and phenotype
TLDR
The resemblance of McLeod syndrome with Huntington's disease and with autosomal recessive chorea‐acanthocytosis suggests that the corresponding proteins—XK, huntingtin, and chorein—might belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia.
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