0000000000660753

AUTHOR

Luigi Sicurella

showing 2 related works from this author

High Variability of Fabry Disease Manifestations in an Extended Italian Family

2015

Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolaseα-galactosidase A (α-GAL). The impairment ofα-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male pati…

MaleDNA Mutational AnalysisFamilial Mediterranean feverlcsh:Medicinemedicine.disease_causePathogenesis0302 clinical medicineSettore BIO/13 - Biologia ApplicataFabry disease; GLA gene; LysoGb3glaFabry diseaseexonic mutation M51IGenetics0303 health sciencesMutationMetabolic disorderGeneral MedicineMiddle AgedPedigree3. Good healthItalyFemalemedicine.symptomResearch ArticleAdultArticle SubjectMolecular Sequence DataBiologyAsymptomaticGeneral Biochemistry Genetics and Molecular BiologyYoung Adult03 medical and health sciencesmedicineHumansFamilyGLA gene030304 developmental biologyfabry diseaseAlpha-galactosidaseBase SequenceGeneral Immunology and MicrobiologyMultiple sclerosislcsh:RLysoGb3medicine.diseaseFabry diseasealpha-GalactosidaseImmunologybiology.protein030217 neurology & neurosurgeryBioMed Research International
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Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs

2018

Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by a galactosidase A (a-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the GLA gene, which encodes a-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. We identified four women initially diagnosed with MS who had GLA mutations associated with FD. Our results indicate that family history besides neurological findings should be evaluated in patients with an uncertain diagnosis of MS. Also the involv…

0301 basic medicineNeurological signsPathologymedicine.medical_specialtyCentral nervous systemmultiple sclerosis03 medical and health sciences0302 clinical medicineα galactosidase aMedicinemisdiagnosisFamily historyfabry diseasebusiness.industryMultiple sclerosismedicine.diseaseFabry diseaseResearch Paper: PathologyHyperintensity3. Good health030104 developmental biologymedicine.anatomical_structureOncologyMisdiagnosiDifferential diagnosisbusiness030217 neurology & neurosurgeryOncotarget
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