A case of adult-onset metachromatic leukodystrophy beginning with behavioral symptoms

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dc.authoridUnal, Suheyla/0000-0003-3266-6256
dc.authoridAcar, Ceren/0000-0003-1842-9203
dc.authoridUnal, Suheyla/0000-0003-3266-6256
dc.authorwosidUnal, Suheyla/JVO-8367-2024
dc.authorwosidAcar, Ceren/M-2926-2019
dc.authorwosidUnal, Suheyla/HJH-7559-2023
dc.contributor.authorTunali, Cemile Hazan
dc.contributor.authorUnal, Sueheyla
dc.contributor.authorAcar, Ceren
dc.contributor.authorOzer, Emel Saglar
dc.date.accessioned2024-08-04T20:53:40Z
dc.date.available2024-08-04T20:53:40Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractMetachromatic leukodystrophy is a rare inherited disor-der of the nervous system with great clinical variability characterized by loss of both cognitive and motor func-tions upon extensive white matter damage by the accu-mulation of sulfatides. Although metachromatic leukodystrophy usually affects children, many cases of adult leukodystrophy have been reported in the litera-ture in the last few years. Adult-onset leukodystrophy typically presents with a progressive syndrome that includes various combinations of cognitive impairment, spasticity, apraxia, ataxia, and upper motor neuron ma-nifestations. In this article, we decided to present this case to draw attention to the fact that the adult form of metachromatic leukodystrophy, which presents with psychotic symptoms and behavioural problems, should be considered in the differential diagnosis of psychotic pictures. In a 48-year-old male patient who did not have any psychiatric or neurological problems before, symp-toms such as meaningless shouting, running away from home, restlessness, and audio-visual hallucinations were added to the clinical picture that started with confusion and disorganized behaviour in a short time. MRI, plasma aryl sulfatase A level (ARSA) and gene analysis were per-formed for differential diagnosis in the patient. It is known that the patient has a sibling who died before the age of one, and two nephews diagnosed with an autism spectrum disorder. Heterozygous c.1283C>A (p P428Q) mutation was detected in the patient, which was not previously reported in the literature or mutation databases. The chromosomal region -22q13.33-in which the ARSA gene with this mutation is located is also a can-didate region for autism. In this respect, it was thought that this mutation might be related to disorganized behavioural problems.en_US
dc.identifier.doi10.5505/kpd.2023.43402
dc.identifier.endpage75en_US
dc.identifier.issn1302-0099
dc.identifier.issn2146-7153
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85153106718en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage69en_US
dc.identifier.urihttps://doi.org/10.5505/kpd.2023.43402
dc.identifier.urihttps://hdl.handle.net/11616/101305
dc.identifier.volume26en_US
dc.identifier.wosWOS:000956417300008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherKlinik Psikiyatri Dergisien_US
dc.relation.ispartofKlinik Psikiyatri Dergisi-Turkish Journal of Clinical Psychiatryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectadult metachromatic leukodystrophyen_US
dc.subjectpsy-chosisen_US
dc.subjectneurologic symptomsen_US
dc.subjectARSA geneen_US
dc.subjectmutationen_US
dc.titleA case of adult-onset metachromatic leukodystrophy beginning with behavioral symptomsen_US
dc.typeArticleen_US

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