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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
D. Ebrahimi-Fakhari, J. Teinert, R. Behne, M. Wimmer, A. D'Amore, K. Eberhardt, B. Brechmann, M. Ziegler, DM. Jensen, P. Nagabhyrava, G. Geisel, E. Carmody, U. Shamshad, KA. Dies, CJ. Yuskaitis, CL. Salussolia, D. Ebrahimi-Fakhari, TS. Pearson,...
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
Wellcome Trust - United Kingdom
R01 NS106298
NINDS NIH HHS - United States
U54 HD090255
NICHD NIH HHS - United States
NLK
Free Medical Journals
od 1996 do Před 1 rokem
Open Access Digital Library
od 1996-01-01
PubMed
32979048
DOI
10.1093/brain/awz307
Knihovny.cz E-zdroje
- MeSH
- adaptorový proteinový komplex 4 genetika MeSH
- corpus callosum diagnostické zobrazování MeSH
- dítě MeSH
- dospělí MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody trendy MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- průřezové studie MeSH
- registrace MeSH
- spastická paraplegie dědičná diagnostické zobrazování genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.0-49.3 years). While the mean age at symptom onset was 0.8 ± 0.6 years [standard deviation (SD), range 0.2-5.0], the mean age at diagnosis was 10.2 ± 8.5 years (SD, range 0.1-46.3). We define a set of core features: early-onset developmental delay with delayed motor milestones and significant speech delay (50% non-verbal); intellectual disability in the moderate to severe range; mild hypotonia in infancy followed by spastic diplegia (mean age: 8.4 ± 5.1 years, SD) and later tetraplegia (mean age: 16.1 ± 9.8 years, SD); postnatal microcephaly (83%); foot deformities (69%); and epilepsy (66%) that is intractable in a subset. At last follow-up, 36% ambulated with assistance (mean age: 8.9 ± 6.4 years, SD) and 54% were wheelchair-dependent (mean age: 13.4 ± 9.8 years, SD). Episodes of stereotypic laughing, possibly consistent with a pseudobulbar affect, were found in 56% of patients. Key features on neuroimaging include a thin corpus callosum (90%), ventriculomegaly (65%) often with colpocephaly, and periventricular white-matter signal abnormalities (68%). Iron deposition and polymicrogyria were found in a subset of patients. AP4B1-associated SPG47 and AP4M1-associated SPG50 accounted for the majority of cases. About two-thirds of patients were born to consanguineous parents, and 82% carried homozygous variants. Over 70 unique variants were present, the majority of which are frameshift or nonsense mutations. To track disease progression across the age spectrum, we defined the relationship between disease severity as measured by several rating scales and disease duration. We found that the presence of epilepsy, which manifested before the age of 3 years in the majority of patients, was associated with worse motor outcomes. Exploring genotype-phenotype correlations, we found that disease severity and major phenotypes were equally distributed among the four subtypes, establishing that SPG47, SPG50, SPG51 and SPG52 share a common phenotype, an 'AP-4 deficiency syndrome'. By delineating the core clinical, imaging, and molecular features of AP-4-associated hereditary spastic paraplegia across the age spectrum our results will facilitate early diagnosis, enable counselling and anticipatory guidance of affected families and help define endpoints for future interventional trials.
Amrita Institute of Medical Sciences and Research Centre Cochin India
Barrow Neurological Institute Phoenix Children's Hospital Phoenix AZ USA
Cambridge Institute for Medical Research University of Cambridge Cambridge UK
Center for Neurogenetics Weill Cornell Medical College New York NY USA
Child Neurology University of Rochester School of Medicine Rochester NY USA
CHU Lille Institut de Génétique Médicale RADEME Lille France
Clinical Genetics Human Genetics and Genome Research Division National Research Centre Cairo Egypt
Department of General Pediatrics University Children's Hospital Muenster Muenster Germany
Department of Molecular Neuroscience UCL Institute of Neurology London UK
Department of Neurology Boston Children's Hospital Harvard Medical School Boston MA USA
Department of Neurology Papageorgiou Hospital Thessaloniki Greece
Department of Neurology University Hospital Würzburg Würzburg Germany
Department of Neurology University of Texas Southwestern Medical Center Dallas TX USA
Department of Neurology University of Yamanashi Yamanashi Japan
Department of Neurology Washington University School of Medicine St Louis MO USA
Department of Pediatric Neurology Jaslok Hospital and Research Centre Mumbai India
Division of Child Neurology Weill Cornell Medicine New York City NY USA
Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA USA
Genetic Health Queensland Royal Brisbane and Women's Hospital Brisbane Australia
Grupo de Medicina Xenómica CIBERER Santiago de Compostela Spain
Institute of Human Genetics Friedrich Alexander Universität Erlangen Nürnberg Erlangen Germany
Institute of Human Genetics University Hospital Leipzig Leipzig Germany
Medical Genetics Centre Hospitalier Universitaire de Liège Liège Belgium
Molecular Medicine IRCCS Fondazione Stella Maris Pisa Italy
Neonatal Research Center Shiraz University of Medical Sciences Shiraz Iran
Neurología Pediátrica Complexo Hospitalario Universitario Santiago de Compostela Spain
Pediatric Genetics Department of Pediatrics Acibadem Mehmet Ali Aydinlar University Istanbul Turkey
Pediatric Medical Genetics Maria Fareri Children's Hospital Valhalla NY USA
Pediatric Neurology Cairo University Cairo Egypt
Pediatric Neurology CHU Montpellier Montpellier France
Pediatric Neurology Dr Sami Ulus Hospital Ankara Turkey
Pediatric Neurology Faculty of Medicine Sohag University Sohag Egypt
Pediatric Neurology Ghent University Hospital Ghent Belgium
Pediatric Neurology Istanbul Medical Faculty Istanbul Turkey
Pediatric Neurology Medanta Hospital Indore India
Pediatric Neurology National Neuroscience Institute King Fahad Medical City Riyadh Saudi Arabia
Pediatric Neurology Saarland University Medical Center Homburg Saar Germany
Pediatric Neurology Unit Department of Pediatrics UZ Brussel Brussels Belgium
Pediatrics Ain Shams University Cairo Egypt
Pediatrics Evangelisches Krankenhaus Oberhausen Oberhausen Germany
Pediatrics Imam Abdulrahman Bin Faisal University Dammam Saudi Arabia
Persian BayanGene Research and Training Center Shiraz University of Medical Sciences Shiraz Iran
Rady Children's Institute for Genomic Medicine Rady Children's Hospital San Diego CA USA
Scientific Institute IRCCS E Medea Unità Operativa Conegliano Treviso Italy
Service de Neurologie Hôpitaux Universitaires de Strasbourg Strasbourg France
Serviço de Genética Médica Universidade Federal da Bahia Salvador Brazil
Sozialpädiatrisches Zentrum Hannover Hannover Germany
Translational Neuroscience Celgene Cambridge MA USA
Translational Neuroscience Center Boston Children's Hospital Harvard Medical School Boston MA USA
Citace poskytuje Crossref.org
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- $a R01 NS106298 $p NINDS NIH HHS $2 United States
- GRA __
- $a U54 HD090255 $p NICHD NIH HHS $2 United States
- LZP __
- $a Pubmed-20210420
