2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Mau-Them F, Haack T, Consortium P, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis M, Grand K, Graham J, Lewis R, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard J, Chrast R, Auer-Grumbach M, Alkuraya F, Shamseldin H, Al Tala S, Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer M, Kamsteeg E, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee H, Ampatzis K, Pierson T, Senderek J. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021, 144: 1422-1434. PMID: 33970200, PMCID: PMC8219359, DOI: 10.1093/brain/awab041.Peer-Reviewed Original ResearchConceptsHereditary spastic paraplegiaPure hereditary spastic paraplegiaGlobal developmental delaySpastic paraplegiaNervous systemNeurological diseasesComplicated hereditary spastic paraplegiaDevelopmental delayAbnormal motor behaviorRespiratory decompensationSpastic tetraplegiaNeurological manifestationsTruncating changesMissense substitutionsBiallelic variantsParaplegiaMotor behaviorDiseaseNeural differentiationUnknown specificityHuman diseasesMitochondrial diseaseDecompensationSpasticityTetraplegia
2014
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
Tüysüz B, Bilguvar K, Koçer N, Yalçınkaya C, Çağlayan O, Gül E, Şahin S, Çomu S, Günel M. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features. American Journal Of Medical Genetics Part A 2014, 164: 1677-1685. PMID: 24700674, DOI: 10.1002/ajmg.a.36514.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBrainChildDNA Mutational AnalysisDNA-Binding ProteinsFaciesFemaleGenes, RecessiveGenetic Association StudiesHomozygoteHumansMagnetic Resonance ImagingMaleMutationNeuroimagingPedigreePhenotypeQuadriplegiaRNA-Binding ProteinsSiblingsConceptsAdaptor protein complex 4Tetraplegic cerebral palsySevere intellectual disabilitySpastic tetraplegiaCerebral palsySpastic tetraplegic cerebral palsyIntellectual disabilityStereotypic laughterCranial imaging findingsWhite matter volumeWhole-exome sequencingNovel homozygous mutationAsymmetrical ventriculomegalyCranial MRIImaging findingsClinical findingsNeuroimaging featuresBrain abnormalitiesCommon findingCorpus callosumAutosomal recessive phenotypePairs of siblingsPatientsSimilar facial featuresMatter volume