OBJECTIVE: @entity19278 ( @entity19278 ) is a @entity179 characterized by @entity1723 and @entity1952 . Our aim was to describe the nature and the frequency of the neurologic manifestations, which had been poorly studied until now. METHODS: We performed a detailed clinical study with genotype-phenotype correlation in a series of 59 @entity1 with @entity19278 . RESULTS: The onset of neurologic symptoms, with a median age of 15 years, was much earlier than previously reported. @entity73 , which was not frequent in previous reports, was observed in 32% of @entity1 with neurologic signs. Like @entity302 , it was mainly found in @entity1 who developed neurologic signs before 15 years of age. In contrast to previous series, we also found @entity600 of cortical development on magnetic resonance imaging in @entity302 @entity1 and white matter involvement, including diffuse @entity62 , in adult @entity1 . We identified 109 mutated alleles corresponding to 56 different mutations of the @entity6362 gene, among which 10 were novel. Homozygosity or compound heterozygosity for missense mutation does not seem to influence the age of onset and the occurrence of @entity16 . However, an interesting point concerns a possible correlation between the location of the mutations and the development of the neurologic manifestations. INTERPRETATION: This series concerns the largest cohort of @entity19278 @entity1 reported to date. It illustrates the wide variety of neurologic signs in this syndrome and the necessity of rapid therapeutic coverage to improve the prognosis.

Neurologic features and genotype-phenotype correlation in XXXX .

@entity1 :: ('9606', 'Species') :: ['children', 'patients'] @entity1952 :: ('MESH:D009896', 'Disease') :: ['optic atrophy'] @entity19278 :: ('MESH:D014929', 'Disease') :: ['Wolfram syndrome', 'WS'] @entity73 :: ('MESH:D003072', 'Disease') :: ['Cognitive impairment'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurologic complications'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformations'] @entity1723 :: ('MESH:D003922', 'Disease') :: ['juvenile-onset diabetes mellitus'] @entity179 :: ('MESH:D019636', 'Disease') :: ['rare neurodegenerative disorder'] @entity302 :: ('MESH:D004827', 'Disease') :: ['epileptic', 'epilepsy'] @entity6362 :: ('7466', 'Gene') :: ['WFS1'] @entity62 :: ('MESH:D056784', 'Disease') :: ['leukoencephalopathy']
@entity19278 :: (MESH:D014929,Disease) :: ['Wolfram syndrome']
