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dc.contributor.author Fekete, Bálint András
dc.contributor.author Pentelényi, Klára
dc.contributor.author Rudas, Gábor
dc.contributor.author Gál, Anikó
dc.contributor.author Grosz, Zoltán
dc.contributor.author Illés, Anett
dc.contributor.author Jimoh, Idris János
dc.contributor.author Csukly, Gábor
dc.contributor.author Domonkos, Andor
dc.contributor.author Molnar, Mária Judit
dc.date.accessioned 2020-08-31T08:13:24Z
dc.date.available 2020-08-31T08:13:24Z
dc.date.issued 2019
dc.identifier 85076971426
dc.identifier.citation journalVolume=20;journalIssueNumber=1;pagination=198, pages: 8;journalTitle=BMC MEDICAL GENETICS;journalAbbreviatedTitle=BMC MED GENET;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/8321
dc.identifier.uri doi:10.1186/s12881-019-0934-4
dc.description.abstract Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome. None of these publications reported about special brain MRI alterations and neuropathological changes in the muscle and peripheral nerves.Our patients with TWNK-dependent Perrault syndrome had severe bilateral hypoacusis, severe ataxia, polyneuropathy, lower limb spastic paraparesis with pyramidal signs, and gonadal dysgenesis. Psychiatric symptoms such as depression and paranoia were present as well. Brain MRI observed progressive cerebellar hyperintensive signs associated with cerebellar, medulla oblongata and cervical spinal cord atrophy. Light microscopy of the muscle biopsy detected severe neurogenic lesions. COX staining was centrally reduced in many muscle fibers. Both muscle and sural nerve electron microscopy detected slightly enlarged mitochondria with abnormal cristae surrounded by lipid vacuoles. In the sural nerve, dystrophic axons had focally uncompacted myelin lamellae present. Genetic investigation revealed multiple mtDNA deletion and compound heterozygous mutations of the TWNK gene (c.1196 A > G, c.1358 G > A).This study demonstrates that TWNK associated Perrault syndrome has a much broader phenotype as originally published. The coexistence of severe hypoacusis, spastic limb weakness, ataxia, polyneuropathy, gonadal dysgensia, hyperintense signals in the cerebellum and the presence of the mtDNA multiple deletion could indicate the impairment of the TWNK gene. This is the first report about pyramidal tract involvement and cerebellar MRI alteration associated with TWNK-related Perrault syndrome.
dc.relation.ispartof urn:issn:1471-2350
dc.title Broadening the phenotype of the TWNK gene associated Perrault syndrome
dc.type Journal Article
dc.date.updated 2020-06-17T08:52:14Z
dc.language.rfc3066 en
dc.rights.holder NULL
dc.identifier.mtmt 31032708
dc.identifier.wos 000511615500001
dc.identifier.pubmed 31852434
dc.contributor.department SE/AOK/I/Genomikai Medicina és Ritka Betegségek Intézete
dc.contributor.department SE/KSZE/MR Kutatóközpont
dc.contributor.institution Semmelweis Egyetem


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