Neuronal intranuclear inclusion disease: Two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia

Movement Disorders

Volumn 25, Issue 9, 2010, Pages 1274-1279

  Lai, Szu Chia ^a   Jung, Shih Ming ^a   Grattan Smith, Padraic ^b   Sugo, Ella ^c   Lin, Yen Wen ^d   Chen, Rou Shayn ^a   Chen, Chiung Chu ^a   Wu Chou, Yah Huei ^a   Lang, Anthony E ^e   Lu, Chin Song ^a  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b SYDNEY CHILDREN'S HOSPITAL   (Australia)

^c PRINCE OF WALES HOSPITAL   (Australia)

^d Center for Drug Evaluation   (Taiwan)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Deep brain stimulation; Dopa induced dyskinesia; Juvenile parkinsonism; Neuronal intranuclear inclusion disease; Oculogyric crisis; Rectal biopsy

Indexed keywords

CARBIDOPA PLUS LEVODOPA; DOPA; DOPAMINE TRANSPORTER; PERGOLIDE; TRACER; ANTIPARKINSON AGENT; LEVODOPA; PEPTIDE; POLYGLUTAMINE; UBIQUITIN;

ARTICLE; AUTOPSY; BRAIN DEPTH STIMULATION; CASE REPORT; CHILD; CORPUS STRIATUM; DIFFERENTIAL DIAGNOSIS; DYSARTHRIA; DYSKINESIA; DYSPHAGIA; EARLY DIAGNOSIS; FEMALE; GAZE; HUMAN; LOW DRUG DOSE; MALE; NEUROLOGIC DISEASE; NEURONAL INTRANUCLEAR INCLUSION DISEASE; NEUROPATHOLOGY; NYSTAGMUS; OCULOGYRIC CRISIS; ONSET AGE; PARKINSONISM; PRIORITY JOURNAL; RECTUM BIOPSY; SCHOOL CHILD; SUBTHALAMIC NUCLEUS; SYMPTOM; TREATMENT RESPONSE; ADOLESCENT; CELL NUCLEUS INCLUSION BODY; DYSKINESIA, DRUG-INDUCED; METABOLISM; NERVE CELL; PARKINSONIAN DISORDERS; PATHOLOGY; TAIWAN;

ADOLESCENT; ANTIPARKINSON AGENTS; CHILD; DYSKINESIA, DRUG-INDUCED; FEMALE; HUMANS; INTRANUCLEAR INCLUSION BODIES; LEVODOPA; MALE; NEURONS; PARKINSONIAN DISORDERS; PEPTIDES; TAIWAN; UBIQUITIN;

EID: 77955063970     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22876     Document Type: Article

References (34)

1. Paviour DC, Surtees RAH, Lees AJ. Diagnostic considerations in juvenile parkinsonism. Mov Disord 2004;19:123-135.
2. McFadden K, Hamilton RL, Insalaco SJ, et al. Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. J Neuropathol Exp Neurol 2005;64:545-552.
3. Lindenberg R, Rubinstein LJ, Herman MM, Haydon GB. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. Acta Neuropathol 1968;10:54-73.
4. Barnett JL, McDonnell WM, Appelman HD, Dobbins WO. Familial visceral neuropathy with neuronal intranuclear inclusions: diagnosis by rectal biopsy. Gastroenterology 1992;102:684-691.
5. Goutiéres F, Mikol J, Aicardi J. Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. Ann Neurol 1990; 27:103-106.
6. Sloane AE, Becker LE, Ang LC, Wark J. Neuronal intranuclear hyaline inclusion disease with progressive cerebellar ataxia. Pediatr Neurol 1994;10:61-66.
7. Zannolli R, Gilman S, Rossi S, et al. Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. Arch Neurol 2002;59:1319-1326.
8. Paviour DC, Revesz T, Holton JL, Evans A, Olsson JE, Lees AJ. Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with lewy bodies. Mov Disord 2005;20:1345-1349.
9. O'Sullivan JD, Hanagasi HA, Daniel SE, Tidswell P, Davies SW, Lees AJ. Neuronal intranuclear inclusion disease and juvenile parkinsonism. Mov Disord 2000;15:990-995.
10. Sung JH, Ramirez-Lassepas M, Mastri AR, Larkin SM. An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease). A clinicopathological study of a case. J Neuropathol Exp Neurol 1980;39:107-130.
11. Haltia M, Somer H, Palo J, Johnson WG. Neuronal intranuclear inclusion disease in identical twins. Ann Neurol 1984;15:316-321.
12. Soffer D. Neuronal intranuclear hyaline inclusion disease presenting as Friedreich's ataxia. Acta Neuropathol 1985;65:322-329.
13. Kulikova-Schupak R, Knupp KG, Pascual JM, et al. Rectal Biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease J Child Neurol 2004;19:59-62.
14. Tateishi J, Nagara H, Ohta M, et al. Intranuclear inclusions in muscle, nervous tissue and adrenal gland. Acta Neuropathol 1984;63:24-32.
15. Katsuragi S, Eto K, Takeya M. One autopsy case with intranuclear acidophilic inclusions in different parts of the central nervous system in a case of juvenile Parkinsonism with oculogyric crisis, kinesia paradoxale and various other neurological signs and symptoms (abstract). Abstracts of the Meeting of the Japanese Society of Neuropathology, Fukuoka, 1981.
16. Garen PD, Powers JM, Young GF, Lee V. Neuronal intranuclear hyaline inclusion disease in a nine year old. Acta Neuropathol 1986;70:327-332.
17. Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VS, Earl J, Wilcken B. Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. Mov Disord 2002;17:354-359.
18. Neville BGR, Parascandalo R, Farrugia R, Felice A. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain 2005;128:2291-2296.
19. Lu CS, Wu Chou YH, Weng YH, Chen RS. Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort. J Neural Transm 2006;70 (Suppl.):235-240.
20. Weng YH, Wu Chou YH, Wu WS, et al. PINK1 mutation in Taiwanese early-onset parkinsonism: clinical, genetic, and dopamine transporter studies. J Neurol 2007;254:1347-1355.
21. Mano T, Takizawa S, Mohri I, et al. Neuronal intranuclear hyaline inclusion disease with rapidly progressive neurological symptoms. J Child Neurol 2007;22:60-66.
22. Kimber TE, Blumbergs PC, Rice JP, et al. Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. J Neurol Sci 1998;160:33-40.
23. Zannolli R, Gilman S, Rossi S, et al. Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. Arch Neurol 2002;59:1319-1326.
24. Pumarola M, Vidal E, Trens JM, Serafín M, Marquez M, Ferrer I. Neuronal intranuclear inclusion disease in a horse. Acta Neuropathol 2005;110:191-195.
25. Munoz-Garcia D, Ludwin SK. Adult-onset neuronal intra nuclear hyaline inclusion disease Neurology 1986;36:785-790.
26. Shih LC, Tarsy D. Deep brain stimulation for the treatment of atypical parkinsonism. Mov Disord 2007;22:2149-2155.
27. Mosaheb S, Thorpe JR, Hashemzadeh-Bonehi L. Neuronal intranuclear inclusions are ultrastructurally and immunologically distinct from cytoplasmic inclusions of neuronal intermediate filament inclusion disease. Acta Neuropathol 2005;110: 360-368.
28. Malandrini A, Villanova M, Tripodi S, et al. Neuronal intranuclear inclusion disease: neuropathologic study of a case. Brain Dev 1998;20:290-294.
29. Pountney DL, Huang Y, Burns RJ, et al. SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. Exp Neurol 2003;184:436-446.
30. Pountney DL, Raftery MJ, Chegini F, Blumbergs PC, Gai WPG. Unc-18-1, dynamin-1 and HSP90 are inclusion body components in neuronal intranuclear inclusion disease identified by anti- SUMO-1-immunocapture. Acta Neuropathol 2008;116:603-614.
31. Bowman AB, Yoo SY, Dantuma NP, Zoghbi HY. Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum Mol Genet 2005;14:679-691.
32. Lieberman AP, Trojanowski JQ, Leonard DG, et al. Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. Ann Neurol 1999;46:271-273.
33. Takahashi J, Fujigasaki H, Iwabuchi K, et al. PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases. Neurobiol Dis 2003;13:230-237.
34. Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009;24:490-499.