Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation

Archives of Neurology

Volumn 60, Issue 2, 2003, Pages 268-272

  Battini, Roberta ^a,c   Bianchi, M Cristina ^b   Boespflug Tanguy, Odile ^d   Tosetti, Michela ^a   Bonanni, Paolo ^a   Canapicchi, Raffaello ^a   Cioni, Giovanni ^a,c  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c UNIVERSITY OF PISA   (Italy)

^d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; PROTEOLIPID PROTEIN;

ADULT; ALLELISM; ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; EXON; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MYELINATION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; WHITE MATTER;

ADULT; BRAIN; CHILD; EVOKED POTENTIALS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE;

EID: 0037320326     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.60.2.268     Document Type: Article

References (12)

1. Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorder at the proteolipid protein locus. Nat Genet. 1994;6:257-261.
2. Aicardi J. Heredodegenerative disorders. In: Aicardi J. Diseases of the Nervous System in Childhood. 2nd ed. London, England: MacKeith Press; 1998:323-369.
3. Cailloux F, Gauthier-Barichard F, et al. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Eur J Hum Genet. 2000;8:837-845.
4. Mascalchi M, Tosetti M, Plasmati R, et al. Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1. Ann Neurol. 1998; 43:244-252.
5. Bianchi MC, Tosetti M, Cioni G, Canapicchi R, Spettroscopia RM protonica a voxel singolo nello studio delle malattie della sostanza bianca in età pediatrica. Riv Neuroradiologia. 1999;12:133-140.
6. 1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Neuropediatrics. 2001;32:1-5.
7. Hodes ME, Blank CA, Pratt VM, et al. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. Am J Med Genet. 1997;69:121-125.
8. Nezu A, Kimura S, Takeshita S, et al. An MRI and MRS study of Pelizaeus-Merzbacher disease. Pediatr Neurol. 1998;18:334-337.
9. Marks HG, Kobayashi H, Hoffman EP, et al. New mutation of proteolipid protein in complicated form of X-linked spastic paraplegia [abstract]. Ann Neurol. 1994; 36:535.
10. Campagnioni AT, Skoff RP. The pathobiology of myelin mutants reveals novel functions of MBP and PLP genes. Brain Pathol. 2001;11:74-91.
11. Lucke T, Steglich C, Das AM, et al. Decreased mitochondrial complex I and ATP synthetas activities and proteollpid protein gene duplication in an infant with early seizures, retinopathy, roving eye movements and hypomyelination [abstract]. Eur J Paed Neurol. 1999;3:A97.
12. Bonavita S, Schiffmann R, Moore DF, et al. Evidence for neuroaxonal injury in patients with proteolipid protein gene. Neurology. 2001;56:785-788.