Erratum: Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) (Neurol Genet (2016) 2 (e98) DOI: 10.1212/NXG.0000000000000098);Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Neurology: Genetics

Volumn 2, Issue 5, 2016, Pages

  Hirst, Jennifer ^a   Madeo, Marianna ^b   Smets, Katrien ^c,d,e   Edgar, James R ^a   Schols, Ludger ^f,g   Li, Jun ^h   Yarrow, Anna ^b   Deconinck, Tine ^c,e   Baets, Jonathan ^c,d,e   Van Aken, Elisabeth ⁱ   De Bleecker, Jan ⁱ   Datiles, Manuel B ^j   Roda, Ricardo H ^k,l   Liepert, Joachim ^f,m   Züchner, Stephan ⁿ   Mariotti, Caterina ^o   De Jonghe, Peter ^c,d,e   Blackstone, Craig ^k   Kruer, Michael C ^p,q,r  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b SANFORD RESEARCH   (United States)

^c DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f UNIVERSITY OF TÜBINGEN   (Germany)

^g GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^h VANDERBILT UNIVERSITY   (United States)

ⁱ GHENT UNIVERSITY HOSPITAL   (Belgium)

^j NATIONAL EYE INSTITUTE   (United States)

^k NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^l JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m Kliniken Schmieder   (Germany)

ⁿ UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^o DEPARTMENT OF NEUROSURGERY   (Italy)

^p UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^q ARIZONA STATE UNIVERSITY   (United States)

^r PHOENIX CHILDREN'S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; AP 5 ZETA PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; AP5Z1 GENE; ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DYSTONIA; ELECTRON MICROSCOPY; FEMALE; GENE EXPRESSION; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; MIDDLE AGED; MISSENSE MUTATION; MOTOR NEUROPATHY; MUTATOR GENE; MYOCLONUS; PARKINSONISM; PROTEIN DEPLETION; PROTEIN EXPRESSION; SENSORY NEUROPATHY; SKIN FIBROBLAST; SPASTIC PARAPLEGIA;

EID: 85046981869     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000098     Document Type: Erratum

References (20)

1. Slabicki M, Theis M, Krastev D.B., et al. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol 2010; 8:e1000408.
2. Pensato V, Castellotti B, Gellera C., et al. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Brain 2014; 137:1907-1920.
3. Schlipf NA, Schüle R, Klimpe S., et al. AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Mol Genet Genom Med 2014; 2:379-382.
4. Hirst J, Borner GH, Edgar J, et al Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15. Mol Biol Cell 2013; 24:2558-2569.
5. Paisan-Ruiz C., Guevara R, Federoff M., et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Dis 2010; 25:1791-1800.
6. Hirst J, Edgar JR, Esteves T, et al Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. Hum Mol Genet 2015; 24:4984-4996.
7. Verkerk AJ, Schot R, Dumee B., et al. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Gen 2009; 85:40-52.
8. Abou Jamra R., Philippe O, Raas-Rothschild A, et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Gen 2011; 88:788-795.
9. Moreno-De-Luca A, Helmers SL, Mao H, et al. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Gen 2011; 48:141-144.
10. Bauer P, Leshinsky-Silver E, Blumkin L., et al. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 2012; 13:73-76.
11. Denora PS, Smets K, Zolfanelli F., et al. Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain 2016; 139:1723-1734.
12. Khundadze M, Kollmann K, Koch N., et al. A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system. PLoS Genet 2013; 9:e1003988.
13. Renvoisé B, Chang J, Singh R, et al. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Trans Neurol 2014; 1:379-389.
14. Tayebi N, Callahan M, Madike V., et al. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 2001; 73:313-321.
15. Coleman RJ, Robb SA, Lake B.D., et al. The diverse neurological features of Niemann-Pick disease type C: a report of two cases. Mov Dis 1988; 3:295-299.
16. Kato N, Arai K, Hattori T. Study of the rostral midbrain atrophy in progressive supranuclear palsy. J Neurol Sci 2003; 210:57-60.
17. Papapetropoulos S, Scaravilli T, Morris H., et al. Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology. Neurology 2005; 64:731-733.
18. Albrecht P, Müller AK, Südmeyer M, et al. Optical coherence tomography in parkinsonian syndromes. PLoS One 2012; 7:e34891.
19. Hutton M, Lendon CL, Rizzu P, et al Association of missense and 5-prime-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393:702-705.
20. Ross OA, Rutherford NJ, Baker M, et al Ataxin-2 repeatlength variation and neurodegeneration. Hum Mol Genet 2011; 20:3207-3212.