AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

Neurogenetics

Volumn 15, Issue 3, 2014, Pages 157-159

  Armstrong, L ^a,b,d   Biancheri, R ^e   Shyr, C ^a,b,c   Rossi, A ^e   Sinclair, G ^a,b,d   Ross, C J ^a,b,c,d   Tarailo Graovac, M ^a,b,c   Wasserman, W W ^a,b,c   Van Karnebeek, C D M ^a,c,d  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b Treatable Intellectual Disability Endeavor in British Columbia (TIDE BC)   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^e G GASLINI INSTITUTE   (Italy)

Author keywords

Cerebral atrophy; Developmental delay; Epilepsy; Genomics; Hypomyelination; Microcephaly; Neuron; Seizures

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CORTICOTROPIN; MIDAZOLAM; TOPIRAMATE; VIGABATRIN; CYTOKINE; RNA BINDING PROTEIN; SMALL INDUCIBLE CYTOKINE SUBFAMILY E, MEMBER 1; TUMOR PROTEIN;

ABNORMAL POSTURE; AIMP1 GENE; AMINO ACID SUBSTITUTION; ARTICLE; ASPIRATION PNEUMONIA; BRAIN ATROPHY; BRAIN DEGENERATION; CAPSULA INTERNA; CASE REPORT; CHILD; CHILD DEATH; CHROMOSOME 4; CLINICAL EXAMINATION; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ELECTROENCEPHALOGRAM; EXOME; FAMILY; FEEDING DISORDER; FEMALE; FOCAL EPILEPSY; GENE; HEAD CIRCUMFERENCE; HEMISPHERE; HEPATOMEGALY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INFANT; INTRACTABLE EPILEPSY; LATERAL BRAIN VENTRICLE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; MYELIN DEFICIENCY; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PERIPHERAL EDEMA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SUBARACHNOID SPACE; TONIC CLONIC SEIZURE; AGE; BRAIN; DEFICIENCY; GENETICS; MUTATION; NEURODEGENERATIVE DISEASES; PATHOLOGY; WHITE MATTER;

AGE FACTORS; BRAIN; CYTOKINES; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION; NEOPLASM PROTEINS; NEURODEGENERATIVE DISEASES; RNA-BINDING PROTEINS; WHITE MATTER;

EID: 84904541271     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0411-3     Document Type: Article

References (7)

1. Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS (2010) Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am J Hum Genet 87:820-828
2. Biancheri R, Rossi E, Zara F, Filocamo M (2011) AIMP1/p43 mutation and PMLD. Am J Hum Genet 88:391
3. Boespflug-Tanguy O, Aubourg P, Dorboz I, Bégou M, Giraud G, Sarret C, Vaurs-Barrière C (2011) Neurodegenerative disorder related to AIMP1/p43mutation is not a PMLD. Am J Hum Genet 88:392-393
4. van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S (2014) The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. Mol Genet Metab 111:428-438
5. Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS (2010) Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 133:2971-2982
6. Di Rocco M, Rossi A, Parenti G, Allegri AE, Filocamo M, Pessagno A, Tortori-Donati P, Minetti C, Biancheri R (2005) Different molecular mechanisms leading towhite matter hypomyelination in infantile onset lysosomal disorders. Neuropediatrics 36:265-269 (Pubitemid 41291199)
7. Zhu X, Liu Y, Yin Y, Zhang B, Kim S, Zhou J (2009) MSC p43 required for axonal development in motor neurons. Proc Natl Acad Sci U S A 106:15944-15949