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RESEARCH PRODUCT
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs
Giuseppe CammarataAlessandro P. BurlinaMaurizio PieroniPaolo ColombaLuisa AmicoGiovanni DuroLuigi SicurellaRiccardo AlessandroRiccardo AlessandroCarmela ZizzoAntonello GiordanoSimone Scaliasubject
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 & neurosurgerydescription
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 involvement of organs outside the central nervous system can support the FD diagnosis.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2018-01-05 | Oncotarget |