Involvement of spinal motor neurons in parkin-positive autosomal recessive juvenile parkinsonism

Neuropathology

Volumn 28, Issue 1, 2008, Pages 74-80

  Sasaki, Shoichi ^a   Shirata, Akiko ^b   Yamane, Kiyomi ^b   Iwata, Makoto ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b Kyushu University   (Japan)

Author keywords

Amyotrophic lateral sclerosis; Autosomal recessive juvenile parkinsonism; Lewy body; Motor neuron; Parkin gene

Indexed keywords

ALPHA SYNUCLEIN; CYSTATIN C; PARKIN; UBIQUITIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL INCLUSION; CELL ULTRASTRUCTURE; CERVICAL SPINAL CORD; CLINICAL FEATURE; EOSINOPHIL; EXON; FEMALE; GENE; GENE DELETION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERREFLEXIA; IMMUNOHISTOCHEMISTRY; LEG; LEWY BODY; LUMBAR SPINAL CORD; NERVE DEGENERATION; NEUROFILAMENT; NEUROPATHOLOGY; PARKIN GENE; PARKINSONISM; PRIORITY JOURNAL; ROUGH ENDOPLASMIC RETICULUM; SACRAL SPINAL CORD; SPINAL CORD MOTONEURON; SPINAL CORD VENTRAL HORN; TENDON REFLEX; THORACIC SPINAL CORD;

ADULT; AGED; ANTERIOR HORN CELLS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LEWY BODIES; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; PARKINSONIAN DISORDERS; UBIQUITIN-PROTEIN LIGASES;

EID: 37549042808     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2007.00829.x     Document Type: Article

References (29)

1. Farrer M, Chan P, Chen R et al. Lewy bodies and Parkinsonism in families with parkin mutations. Ann Neurol 2001 50 : 293 300.
2. Hayashi S, Wakabayashi K, Ishikawa A et al. An autopsy case of autosomal-recessive juvenile Parkinsonism with a homozygous exon 4 deletion in the parkin gene. Mov Disord 2000 15 : 884 888.
3. Morales B, Martinez A, Gonzalo I et al. Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein. Mov Disord 2002 17 : 1374 1380.
4. Mori H, Kondo T, Yokochi M et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998 51 : 890 892.
5. Sasaki S, Shirata A, Yamane K, Iwata M. Parkin-positive autosomal recessive juvenile parkinsonism with α-synuclein -positive inclusions. Neurology 2004 63 : 678 682.
6. van de Warrenburg BP, Lammens M, Lücking CB et al. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 2001 56 : 555 557.
7. Shirata A, Goto Y, Toi S, Yamane K, Hattori N, Mizuno Y. Two female siblings with juvenile parkinsonism with an autosomal recessive inheritance. J Mov Disord Disabil 1999 9 : 35 39. (in Japanese.)
8. Iwatsubo T. Aggregation of α-synuclein in the pathogenesis of Parkinson's disease. J Neurol 2003 250 (Suppl 3 III/11 III /14.
9. Klein C, Pramstaller PP, Kis B et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000 48 : 65 71.
10. Lücking CB, Dürr A, Bonifati V et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 2000 342 : 1560 1567.
11. Nichols WC, Pankratz N, Uniacke SK et al. Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families. J Med Genet 2002 39 : 89 92.
12. Lohmann E, Periquet M, Bonifati V et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003 154 : 176 185.
13. Tassin J, Durr A, de Broucker T et al. Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Am J Hum Genet 1998 63 : 88 94.
14. Kuroda Y, Mitsui T, Akaike M, Azuma H, Matsumoto T. Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism. J Neurol Neurosurg Psychiatry 2001 71 : 231 234.
15. Yamamura Y, Hattori N, Matsuminie H, Kuzuhara S, Mizuno Y. Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. Brain Dev 2000 1 (Suppl 87 91.
16. Abbas N, Lücking CB, Ricard S et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum Mol Genet 1999 8 : 567 574.
17. Lücking CB, Abbas N, Dürr A et al. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. Lancet 1998 352 : 1355 1356.
18. Pramstaller PP, Schlossmacher MG, Jacques TS et al. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 2005 158 : 411 422.
19. Wakabayashi K, Takahashi H. Neuropathology of autonomic nervous system in Parkinson's disease. Eur Neurol 1997 38 (Suppl 2 2 7.
20. Klos KJ, Ahlskog JE, Josephs KA et al. α-Synuclein pathology in the spinal cords of neurologically asymptomatic aged individuals. Neurology 2006 66 : 1100 1102.
21. Hirano A, Kurland LT, Sayre GP. Familial amyotrophic lateral sclerosis: a subgroup characterized by posterior and spinocerebellar tract involvement and hyaline inclusions in the anterior horn cells. Arch Neurol 1967 16 : 232 243.
22. Sasaki S, Maruyama S. Immunocytochemical and ultrastructural studies of hyaline inclusions in sporadic motor neuron disease. Acta Neuropathol (Berl) 1991 82 : 295 301.
23. Sasaki S, Komori T, Iwata M. Neuronal inclusions in sporadic motor neuron disease are negative for alpha-synuclein. Neurosci Lett 2006 397 : 15 19.
24. Murakami T, Shoji M, Imai Y et al. Pael-R is accumulated in Lewy bodies of Parkinson's disease. Ann Neurol 2004 55 : 439 442.
25. Okamoto K, Hirai S, Amari M, Watanabe M, Sakurai A. Bunina bodies in amyotrophic lateral sclerosis immunostained with rabbit anti-cystatin C serum. Neurosci Lett 1993 162 : 125 128.
26. Imai Y, Soda M, Inoue H, Hattori N, Mizuno Y, Takahashi R. An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin. Cell 2001 105 : 891 902.
27. Haass C, Kahle PJ. Parkin and its substrates. Science 2001 293 : 224 225.
28. Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM. Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proc Natl Acad Sci USA 2000 97 : 13354 13359.
29. Shimura H, Hattori N, Kubo S et al. Familial Parkinson's disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000 25 : 302 305.