Hereditary spastic paraplegia associated with dopa-responsive parkinsonism

Movement Disorders

Volumn 21, Issue 5, 2006, Pages 716-717

  Micheli, Federico ^a,b   Cersósimo, María Graciela ^a   Zúñiga Ramírez, Carlos ^a  

^a HOSPITAL DE CLÍNICAS JOSÉ DE SAN MARTÍN   (Argentina)

^b NONE   (Argentina)

Author keywords

Levodopa; Paraparesis; Parkinsonism

Indexed keywords

AMANTADINE; CARBIDOPA PLUS LEVODOPA; ENTACAPONE;

ADULT; ANAMNESIS; ARTICLE; BRAIN SCINTISCANNING; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DOSE RESPONSE; DRUG MEGADOSE; DYSKINESIA; FAMILY HISTORY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PRIORITY JOURNAL; QUADRIPLEGIA; TREATMENT OUTCOME;

ANTIPARKINSON AGENTS; FOLLOW-UP STUDIES; HUMANS; LEVODOPA; MALE; MIDDLE AGED; PARKINSON DISEASE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 33646915972     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20800     Document Type: Article

References (24)

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-1155.
2. Fink JF, Rainier R. Hereditary spastic paraplegia: spastin in phenotype and function. Arch Neurol 2004;61:830-833.
3. Meijer IA, Hand CK, Cossette P, et al, Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol 2002;59:281-286.
4. Hentai A, Deng H-X, Zhai H, et a]. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology 2000;55:1388-1390.
5. Hodgkinson CA, Bohlega S, Abu-Amero SN, et al. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13ql4. Neurology 2002;59:1905-1909.
6. Lindsey JC, Lusher ME, McDermott CJ, et al. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet 2000;37:759-765.
7. Hughes CA, Byrne PC, Webb S, et al. SPG15, a new locus for autosomal recessive complicated HSP on chromosome l4q. Neurology 2001;56:1230-1233.
8. Battini R, Bianchi MC, Boespflug-Tanguy O, et al. Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation. Arch Neurol 2003;60:268-272.
9. Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet 2003;40:81-86.
10. Iwabuchi K, Yagishita, S, Amano N, et al. An autopsy case of complicated form of spastic paraplegia with amyotrophy, mental deficiency, sensory impairment, and parkinsonism. No To Shinkei 1990; 1: 1075-1083.
11. Kang SY. Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum. Pakinsonism Relat Disord 2004;10:425-427.
12. Uyama E, Hirano T, Yoshida A, Doi O, Maruoka S, Araki S. An adult case of Chediak-Higashi syndrome with parkinsonism and marked atrophy of the central nervous system. Rinsho Shinkeigaku 1991;31:24-31.
13. Mora CA, Garruto RM, Brown P, et al. Seroprevalence of antibodies to HTLV-I in patients with chronic neurological disorders other than tropical spastic paraparesis. Ann Neurol 1988;23:192-195.
14. Casali C, Valente EM, Bertini E, et al. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology 2004;62:262-268.
15. Martínez Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a ǹew locus for recessive familial spastic paraparesis to 15q13-'15'. Neurology 1999;53:50.
16. Winner B, Uyanik G, Gross C, et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in Spastic gait gene 11 (SPG11). Arch Neurol 2004;61: 117-121.
17. Gwinn-Hardy K, Singleton A, O'Suilleabhain P, et al. Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family. Arch Neurol 2001;58:296-299.
18. Sakai T, Kawakami H. Machado-Joseph disease: a proposal of spastic paraplegic subtype. Neurology 1996;46:846-847.
19. Jan MM. Misdiagnosis in children with dopa-responsive dystonia. Pediatr Neurol 2004;31:298-303.
20. Paviour DC, Surtees RA, Lees AJ. Diagnosis considerations in juvenile parkinsonism. Mov Disord 2004;19:123-135.
21. Ishikawa A, Piao YS, Miyashita A, et al. A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. Ann Neurol 2005;57:429-434.
22. Crook R, Verkkoniemi A, Perez-Tur J, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med 1998;4:452-455.
23. Verkkoniemi A, Kalimo H, Pactau A, et al. Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. J Neuropathol Exp Neurol 2001;60:483-492.
24. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.