WFRF:(Parham P)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 15168naa a2201417 4500 | |
| 001 | oai:DiVA.org:uu-435414 | |
| 003 | SwePub | |
| 008 | 210226s2020 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4354142 URI |
| 024 | 7 | a https://doi.org/10.1093/brain/awz3072 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Ebrahimi-Fakhari, Dariusu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.4 aut |
| 245 | 1 0 | a Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia |
| 264 | c 2020-09-26 | |
| 264 | 1 | a OXFORD ENGLAND :b Oxford University Press (OUP),c 2020 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 653 | a SPG47 | |
| 653 | a SPG50 | |
| 653 | a SPG51 | |
| 653 | a SPG52 | |
| 653 | a neurodegeneration | |
| 700 | 1 | a Teinert, Julianu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Univ Hosp Heidelberg, Ctr Paediat & Adolescent Med, Div Child Neurol & Metab Med, Heidelberg, Germany.4 aut |
| 700 | 1 | a Behne, Robertu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Univ Hosp Wurzburg, Dept Neurol, Wurzburg, Germany.4 aut |
| 700 | 1 | a Wimmer, Miriamu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a D'Amore, Angelicau Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;IRCCS Fdn Stella Maris, Mol Med, Pisa, Italy.4 aut |
| 700 | 1 | a Eberhardt, Kathrinu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Brechmann, Barbarau Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Ziegler, Marvinu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Jensen, Dana M.u Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA.4 aut |
| 700 | 1 | a Nagabhyrava, Premsaiu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Harvard Med Sch, Translat Neurosci Ctr, Boston Childrens Hosp, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Geisel, Gregoryu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Harvard Med Sch, Translat Neurosci Ctr, Boston Childrens Hosp, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Carmody, Erinu Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Harvard Med Sch, Translat Neurosci Ctr, Boston Childrens Hosp, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Shamshad, Uzmau Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Harvard Med Sch, Translat Neurosci Ctr, Boston Childrens Hosp, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Dies, Kira A.u Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Harvard Med Sch, Translat Neurosci Ctr, Boston Childrens Hosp, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Yuskaitis, Christopher J.u Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Salussolia, Catherine L.u Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Ebrahimi-Fakhari, Danielu Saarland Univ, Med Ctr, Pediat Neurol, Homburg, Germany.;Univ Childrens Hosp Muenster, Dept Gen Pediat, Munster, Germany.4 aut |
| 700 | 1 | a Pearson, Toni S.u Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA.4 aut |
| 700 | 1 | a Saffari, Afshinu Univ Hosp Heidelberg, Ctr Paediat & Adolescent Med, Div Child Neurol & Metab Med, Heidelberg, Germany.4 aut |
| 700 | 1 | a Ziegler, Andreasu Univ Hosp Heidelberg, Ctr Paediat & Adolescent Med, Div Child Neurol & Metab Med, Heidelberg, Germany.4 aut |
| 700 | 1 | a Koelker, Stefanu Univ Hosp Heidelberg, Ctr Paediat & Adolescent Med, Div Child Neurol & Metab Med, Heidelberg, Germany.4 aut |
| 700 | 1 | a Volkmann, Jensu Univ Hosp Wurzburg, Dept Neurol, Wurzburg, Germany.4 aut |
| 700 | 1 | a Wiesener, Antjeu Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany.4 aut |
| 700 | 1 | a Bearden, David R.u Univ Rochester, Sch Med, Child Neurol, Rochester, NY USA.4 aut |
| 700 | 1 | a Lakhani, Shenelau Weill Cornell Med Coll, Ctr Neurogenet, New York, NY USA.4 aut |
| 700 | 1 | a Segal, Devorahu Weill Cornell Med Coll, Ctr Neurogenet, New York, NY USA.;Weill Cornell Med, Div Child Neurol, New York, NY USA.4 aut |
| 700 | 1 | a Udwadia-Hegde, Anaitau Jaslok Hosp & Res Ctr, Dept Pediat Neurol, Mumbai, Maharashtra, India.4 aut |
| 700 | 1 | a Martinuzzi, Andreau IRCCS E Medea, Unita Operat Conegliano, Sci Inst, Treviso, Italy.4 aut |
| 700 | 1 | a Hirst, Jenniferu Univ Cambridge, Cambridge Inst Med Res, Cambridge, England.4 aut |
| 700 | 1 | a Perlman, Sethu Univ Iowa, Dept Pediat, Carver Coll Med, Div Neurol, Iowa City, IA 52242 USA.4 aut |
| 700 | 1 | a Takiyama, Yoshihisau Univ Yamanashi, Dept Neurol, Kofu, Yamanashi, Japan.4 aut |
| 700 | 1 | a Xiromerisiou, Georgiau Papageorgiou Hosp, Dept Neurol, Thessaloniki, Greece.4 aut |
| 700 | 1 | a Vill, Katharinau Ludwig Maximilians Univ Munchen, Dr von Hauner Childrens Hosp, Pediat Neurol & Dev Med, Munich, Germany.4 aut |
| 700 | 1 | a Walker, William O.u Univ Washington, Sch Med, Dept Pediat, Seattle Childrens Hosp, Seattle, WA 98195 USA.4 aut |
| 700 | 1 | a Shukla, Anjuu Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India.4 aut |
| 700 | 1 | a Gupta, Rachana Dubeyu Medanta Hosp, Pediat Neurol, Indore, Madhya Pradesh, India.4 aut |
| 700 | 1 | a Dahl, Niklasu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik,Barnkirurgisk forskning4 aut0 (Swepub:uu)nikldahl |
| 700 | 1 | a Aksoy, Ayseu Dr Sami Ulus Hosp, Pediat Neurol, Ankara, Turkey.4 aut |
| 700 | 1 | a Verhelst, Heleneu Ghent Univ Hosp, Pediat Neurol, Ghent, Belgium.4 aut |
| 700 | 1 | a Delgado, Mauricio R.u Univ Texas Southwestern Med Ctr Dallas, Dept Neurol, Dallas, TX USA.4 aut |
| 700 | 1 | a Pourova, Radka Kremlikovau Charles Univ Prague, Med Fac 2, Dept Biol & Med Genet, Prague, Czech Republic.;UH Motol, Prague, Czech Republic.4 aut |
| 700 | 1 | a Sadek, Abdelrahim A.u Sohag Univ, Fac Med, Pediat Neurol, Sohag, Egypt.4 aut |
| 700 | 1 | a Elkhateeb, Nour M.u Cairo Univ, Pediat Neurol, Cairo, Egypt.4 aut |
| 700 | 1 | a Blumkin, Lubovu Tel Aviv Univ, Wolfson Med Ctr, Sackler Sch Med, Pediat Neurol Unit,Movement Disorders Clin, Tel Aviv, Israel.4 aut |
| 700 | 1 | a Brea-Fernandez, Alejandro J.u CIBERER, Grp Med Xenom, Santiago De Compostela, Spain.4 aut |
| 700 | 1 | a Dacruz-Alvarez, Davidu Complexo Hosp Univ, Neurol Pediat, Santiago De Compostela, Spain.4 aut |
| 700 | 1 | a Smol, Thomasu CHU Lille, RADEME, Inst Genet Med, Lille, France.4 aut |
| 700 | 1 | a Ghoumid, Jamalu CHU Lille, RADEME, Inst Genet Med, Lille, France.4 aut |
| 700 | 1 | a Miguel, Diegou Univ Fed Bahia, Serv Genet Med, Salvador, BA, Brazil.4 aut |
| 700 | 1 | a Heine, Constanzeu Univ Hosp Leipzig, Inst Human Genet, Leipzig, Germany.4 aut |
| 700 | 1 | a Schlump, Jan-Ulrichu Evangel Krankenhaus, Pediat, Oberhausen, Germany.4 aut |
| 700 | 1 | a Langen, Hendriku Sozialpadiatr Zentrum Hannover, Hannover, Germany.4 aut |
| 700 | 1 | a Baets, Jonathanu Univ Antwerp, Neurogenet Grp, Antwerp, Belgium.;Univ Antwerp, Neuromuscular Reference Ctr, Antwerp, Belgium.;Antwerp Univ Hosp, Antwerp, Belgium.4 aut |
| 700 | 1 | a Bulk, Saskiau Ctr Hosp Univ Liege, Med Genet, Liege, Belgium.4 aut |
| 700 | 1 | a Darvish, Hosseinu Semnan Univ Med Sci, Canc Res Ctr, Semnan, Iran.;Semnan Univ Med Sci, Dept Med Genet, Semnan, Iran.4 aut |
| 700 | 1 | a Bakhtiari, Somayehu Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a Kruer, Michael C.u Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a Lim-Melia, Elizabethu Maria Fareri Childrens Hosp, Pediat Med Genet, Valhalla, NY USA.4 aut |
| 700 | 1 | a Aydinli, Nuru Acibadem Mehmet Ali Aydinlar Univ, Dept Pediat, Pediat Genet, Istanbul, Turkey.4 aut |
| 700 | 1 | a Alanay, Yaseminu Istanbul Med Fac, Pediat Neurol, Istanbul, Turkey.4 aut |
| 700 | 1 | a El-Rashidy, Omniau Ain Shams Univ, Pediat, Cairo, Egypt.4 aut |
| 700 | 1 | a Nampoothiri, Sheelau Amrita Inst Med Sci & Res Ctr, Cochin, Kerala, India.4 aut |
| 700 | 1 | a Patel, Chiragu Royal Brisbane & Womens Hosp, Genet Hlth Queensland, Brisbane, Qld, Australia.4 aut |
| 700 | 1 | a Beetz, Christianu Centogene AG, Rostock, Germany.4 aut |
| 700 | 1 | a Bauer, Peteru Centogene AG, Rostock, Germany.4 aut |
| 700 | 1 | a Yoon, Graceu Univ Toronto, Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON, Canada.4 aut |
| 700 | 1 | a Guillot, Mireilleu Hosp Sick Children, Dept Paediat, Toronto, ON, Canada.;Univ Toronto, Toronto, ON, Canada.4 aut |
| 700 | 1 | a Miller, Steven P.u Hosp Sick Children, Dept Paediat, Toronto, ON, Canada.;Univ Toronto, Toronto, ON, Canada.4 aut |
| 700 | 1 | a Bourinaris, Thomasu UCL Inst Neurol, Dept Mol Neurosci, London, England.4 aut |
| 700 | 1 | a Houlden, Henryu UCL Inst Neurol, Dept Mol Neurosci, London, England.4 aut |
| 700 | 1 | a Robelin, Laurau Hop Univ Strasbourg, Serv Neurol, Strasbourg, France.4 aut |
| 700 | 1 | a Anheim, Mathieuu Hop Univ Strasbourg, Serv Neurol, Strasbourg, France.4 aut |
| 700 | 1 | a Alamri, Abdullah S.u Natl Neurosci Inst, King Fahad Med City, Pediat Neurol, Riyadh, Saudi Arabia.4 aut |
| 700 | 1 | a Mahmoud, Adel A. H.u Imam Abdulrahman Bin Faisal Univ, Pediat, Dammam, Saudi Arabia.4 aut |
| 700 | 1 | a Inaloo, Sorooru Shiraz Univ Med Sci, Neonatal Res Ctr, Shiraz, Iran.4 aut |
| 700 | 1 | a Habibzadeh, Parhamu Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran.4 aut |
| 700 | 1 | a Faghihi, Mohammad Aliu Shiraz Univ Med Sci, Persian BayanGene Res & Training Ctr, Shiraz, Iran.;Univ Miami, Ctr Therapeut Innovat, Miami, FL USA.;Univ Miami, Dept Psychiat & Behav Sci, Miami, FL USA.4 aut |
| 700 | 1 | a Jansen, Anna C.u UZ Brussel, Pediat Neurol Unit, Dept Pediat, Brussels, Belgium.4 aut |
| 700 | 1 | a Brock, Stefanieu UZ Brussel, Pediat Neurol Unit, Dept Pediat, Brussels, Belgium.4 aut |
| 700 | 1 | a Roubertie, Agatheu CHU Montpellier, Pediat Neurol, Montpellier, France.4 aut |
| 700 | 1 | a Darras, Basil T.u Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Agrawal, Pankaj B.u Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Newborn Med, Boston, MA 02115 USA.;Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA.4 aut |
| 700 | 1 | a Santorelli, Filippo M.u IRCCS Fdn Stella Maris, Mol Med, Pisa, Italy.4 aut |
| 700 | 1 | a Gleeson, Josephu Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA.4 aut |
| 700 | 1 | a Zaki, Maha S.u Natl Res Ctr, Clin Genet Human Genet & Genome Res Div, Cairo, Egypt.4 aut |
| 700 | 1 | a Sheikh, Sarah, Iu Celgene, Translat Neurosci, Cambridge, MA USA.4 aut |
| 700 | 1 | a Bennett, James T.u Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA.4 aut |
| 700 | 1 | a Sahin, Mustafau Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Harvard Med Sch, Translat Neurosci Ctr, Boston Childrens Hosp, Boston, MA 02115 USA.4 aut |
| 710 | 2 | a Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.b Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.;Univ Hosp Heidelberg, Ctr Paediat & Adolescent Med, Div Child Neurol & Metab Med, Heidelberg, Germany.4 org |
| 773 | 0 | t Braind OXFORD ENGLAND : Oxford University Press (OUP)g 143:10, s. 2929-2944q 143:10<2929-2944x 0006-8950x 1460-2156 |
| 856 | 4 | u https://doi.org/10.1093/brain/awz307y Fulltext |
| 856 | 4 | u https://academic.oup.com/brain/article-pdf/143/10/2929/36210055/awz307.pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435414 |
| 856 | 4 8 | u https://doi.org/10.1093/brain/awz307 |
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