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Paralisi cerebrali infantili e paraplegie spastiche ereditarie - TESTO

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09-capitolo 19-07-2006 10:31 Pagina 273<br />

9 – PARALISI CEREBRALI INFANTILI E PARAPLEGIE SPASTICHE EREDITARIE<br />

[108] PATERNOTTE C., RUDNICKI D., FIZAMES C. ET AL., Quality assessment<br />

of whole genome mapping data in the refined familial<br />

spastic paraplegia interval on chromosome 14q. Genome Res.<br />

8:1216-1227, 1998.<br />

[109] PRASAD A.N., BREEN J.C., AMPOLA M.G.ET AL., Argininemia: a<br />

treatable genetic cause of progressive spastic diplegia simulating<br />

cerebral palsy: case reports and literature review. J. Child.<br />

Neurol. 12:301-309, 1997.<br />

[110] RAPHAELSON M.I., STEVENS J.C., ELDERS J. ET AL., Familial<br />

spastic paraplegia, mental retardation and precocious puberty.<br />

Arch. Neurol. 40:809-810, 1983.<br />

[111] RA S K I N D W.H., PE R I C A K- VA N C E M.A., LE N N O N F. E T A L. ,<br />

Familial spastic paraparesis: evaluation of locus heterogeneity,<br />

anticipation, and haplotype mapping of the SPG4 locus on the<br />

short arm of chromosome 2. Am. J. Med. Genet. 74:26-36, 1997.<br />

[112] REFSUM S., SKILLICORN SA., Amyotrophic familial spastic<br />

paraplegia. Neurology 4:40-47, 1954.<br />

[113] REID E. Science in motion: common molecular pathological<br />

themes emerge in the hereditary spastic paraplegias. J. Med.<br />

Genet. 40:81-86, 2003.<br />

[114] REID E., DEARLOVE A.M., OSBORN O. ET AL., A locus for autosomal<br />

dominant “pure” hereditary spastic paraplegia maps to<br />

chromosome 19q13. Am. J. Hum. Genet. 66:728-732, 2000.<br />

[115] REID E., DEARLOVE A.M., RHODES M. ET AL., A new locus for<br />

autosomal dominant “pure” hereditary spastic paraplegia<br />

mapping to chromosome 12q13, and evidence for further genetic<br />

heterogeneity. Am. J. Hum. Genet. 65:757-763, 2000.<br />

[116] REID E., DEARLOVE A.M., WHITEFORD M.L. ET AL., Autosomal<br />

dominant spastic paraplegia: refined SPG8 locus and additional<br />

genetic heterogeneity. Neurology 53:1844-1849, 1999.<br />

[117] REID E., GRAYSON C., RUBINSZTEIN D.C. ET AL., Subclinical<br />

cognitive impairment in autosomal dominant “pure” hereditary<br />

spastic paraplegia. J. Med. Genet. 36:797-798, 1999.<br />

[118] RE S T I V O D.A., MA R C H E S E RA G O N A R., GI U F F R I D A S., FA L S A P E R L A<br />

R. Successful botulinum toxin treatment of dysphagia in a young<br />

child with nemaline myopathy. Dysphagia, 16:228-229, 2001.<br />

[119] RESTIVO D.A., MARCHESE RAGONA R., STAFFIERI A., DE GRAN-<br />

DIS D., Successful botulinum toxin treatment of dysphagia in<br />

oculopharyngeal muscular dystrophy. Gastroenterology,<br />

119:1416, 2000.<br />

[120] ROTHNER A.D., YAHR F., YAHR M.D., Familial spastic paraparesis,<br />

optic atrophy, and dementia. New York State J. Med.<br />

756-758, 1976.<br />

[121] SACK G.H., HUETHER C.A., GARG N., Familial spastic paraplegia<br />

– clinical and pathologic studies in a large kindred. Johns<br />

Hopkins Med. J. 143:117-121, 1978.<br />

[122] SA U G I E R- VE B E R P., MU N N I C H A., BO N N E A U D . E T A L., X-linked spastic<br />

paraplegia and Pelizaeus-Merzbacher disease are allelic disorders<br />

at the proteolipid protein locus. Nat. Genet. 6:257-262, 1994.<br />

[123] SCHWARZ G.A., LIU C.N., Hereditary (familial) spastic paraplegia;<br />

further clinical and pathologic observations. AMA<br />

Arch. Neurol. Psychiatry 75:144-162, 1956.<br />

[124] SERENA M., RIZZUTO N., MORETTO G. ET AL., Familial spastic<br />

paraplegia with peroneal amyotrophy. A family with hypersensitivity<br />

to pyrexia. Ital. J. Neurol. Sci. 11:583-588, 1989.<br />

[125] SERI M., CUSANO R., FORABOSCO P. ET AL., Genetic mapping to<br />

10q23.3-q24.2, in a large Italian pedigree, of a new syndrome<br />

showing bilateral cataracts, gastroesophageal reflux, and spastic<br />

paraparesis with amyotrophy. Am. J. Hum. Genet. 64:586-<br />

593, 1999.<br />

[126] SHEVELL M.I., MAJNEMER A., MORIN I. Etiologic yield of cerebral<br />

palsy: a contemporary case series. Pediatr. Neurol.,<br />

28:352-359, 2003.<br />

[127] SHIBASKI Y., TANAKA H., IWABUCHI K. ET AL., Linkage of autosomal<br />

recessive hereditary spastic paraplegia with mental<br />

impairment and thin corpus callosum top chromosome 15q13-<br />

15. Ann. Neurol. 48:108-112, 2000.<br />

[128] SILVER J.R., Familial spastic paraplegia with amyotrophy of<br />

the hands. Ann. Hum. Genet. 30:69-75, 1996.<br />

[129] SIMPSON M.A., CROSS H., PROUKAKIS C. ET AL., Maspardin is<br />

mutated in mast syndrome, a complicated form of hereditary<br />

spastic paraplegia associated with dementia. Am. J. Hum.<br />

Genet. 73:1147-1156, 2003.<br />

273<br />

[130] STARLING A., ROCCO P., CAMBI F. ET AL., Further evidence for<br />

a fourth gene causing X-linked pure spastic paraplegia. Am. J.<br />

Med. Genet. 111:152-156, 2002.<br />

[131] STEINMULLER R., LANTIGUA-CRUZ A., GARCIA-GARCIA R. ET<br />

AL., Evidence of a third locus in X-linked recessive spastic<br />

paraplegia. Hum. Genet. 100:287-289, 1997.<br />

[132] STEWART R.M., TUNELL G., EHLE A., Familial spastic paraplegia,<br />

peroneal neuropathy, and crural hypopigmentation: a new<br />

neurocutaneous syndrome. Neurology 31:754-757, 1981<br />

[133] STRAUSSBERG R., BLATT I., BRAND N. ET AL. X-linked mental<br />

retardation with bilateral clasped thumbs. Report of another<br />

affected family. Clin. Genet. 40:337-341, 1991.<br />

[134] STRUMPELL A. Die primaere Seitenstrangsklerose spastische<br />

Spinalparalyse. Deutsch Z. Nervenheilk 27:291-339, 1904.<br />

[135] SUTHERLAND J.M., GLASG D., Familial spastic paraplegia. Its<br />

relation to mental and cardiac abnormalities. Lancet ii:179-<br />

180, 1957.<br />

[136] TALLASKEN C.M., DURR A., BRICE A., Recent advances in herediatary<br />

spastic paraplegias. Curr. Opin. Neurol. 14:457-463,<br />

2001.<br />

[137] TALLAKSEN C.M., GUICHART-GOMEZ E., VERPILLAT P. ET AL.,<br />

Subtle cognitive impairment but no dementia in patients with<br />

spastin mutations. Arch. Neurol. 60:1113-1118, 2003.<br />

[138] TAMAGAKI A., SHIMA M., TOMITA R. ET AL., Segregation of a<br />

pure form of spastic paraplegia and NOR insertion into Xq11.2.<br />

Am. J. Med. Genet. 94:5-8, 2000.<br />

[139] THOMAS P.K., MISRA V.P., KING R.H. ET AL., Autosomal recessive<br />

hereditary sensory neuropathy with spastic paraplegia.<br />

Brain 117 (Pt 4):651-659, 1994.<br />

[140] TUCK R.R., O’NEILL B.P., GHARIB H. ET AL., Familial spastic<br />

paraplegia with Kallman’s syndrome. J. Neurol .Neurosurg.<br />

Psych. 46:671-674, 1983.<br />

[141] UYAMA E., TERAMOTO H., HASHIMOTO Y. ET AL., Two siblings<br />

of familial spastic paraplegia with cutis verticis gyrata and<br />

mental retardation. Rinsho Shinkeigaku 28:97-101, 1988.<br />

[142] VALENTE E.M., BRANCATI F., CAPUTO V. ET AL., Novel locus for<br />

autosomal dominant pure hereditary spastic paraplegia<br />

(SPG19) maps to chromosome 9q33-q34. Ann. Neurol. 51:681-<br />

685, 2002.<br />

[143] VAN BOGAERT L., Etude sur la <strong>paraplegie</strong> spasmodique familiale.<br />

La famille Van L: forme classique pure avec atrophie<br />

optique massive chez certaine de ses members. Considerations<br />

genetiques sur la <strong>paraplegie</strong> spasmodique familiale en general.<br />

Acta Neurol. Belg. 52:795-807, 1952.<br />

[144] VAZZA G.Z.M., BOARETTO F., MICAGLIO G.F.ET AL., A new<br />

locus for autosomal recessive spastic paraplegia associated<br />

with mental retardation and distal motor neuropathy SPG14<br />

maps to chromosome 3q27-q28. Am. J. Hum. Genet. 67:504-<br />

509, 2000.<br />

[145] VOLPE J.J. Neurology of the Newborn 4ª ed., W.B. Saunders and<br />

Co., Filadelfia, 2001.<br />

[146] WEBB S., COLEMAN D., BYRNE P. ET AL., Autosomal dominant<br />

hereditary spastic paraparesis with cognitive loss linked to<br />

chromosome 2p. Brain 121(Pt4):601-609, 1998.<br />

[147] WELLS C.R., JANKOVIC J., Familial spastic paraparesis and eafness.<br />

Arch. Neurol. 43:943-946, 1986.<br />

[148] WILLARD H.F., RIORDAN J.R., Assignment of the gene for myelin<br />

proteolipid protein to the X chromosome: implications for<br />

X-linked myelin disorders. Science 230:940-942, 1985.<br />

[149] WOODWARD K, KENDALL E, VETRIE D ET AL., Pelizaeus-<br />

Merzbacher disease: identification of Xq22 proteolipid- protein<br />

duplications and characterization of breakpoints by interphase<br />

FISH. Am. J. Hum. Genet. 63:207-217, 1998.<br />

[150] YEATMAN GW., Mental retardation-clasped thumb syndrome.<br />

Am. J. Med. Genet. 17:339-344, 1984.<br />

[150] YOON B.H., PARK C.W. CHAIWORAPONGSA T. Intrauterine<br />

infection and the development of cerebral palsy. BJOG 10,<br />

(suppl 20):124-127, 2003.<br />

[151] YOUNG R.R., Spasticity: a review. Neurology 44(s9):12-20,<br />

1994.<br />

[152] ZHAO X., ALVARADO D., RAINIER S. ET AL., Mutations in a<br />

newly identified GTPase gene cause autosomal dominant hereditary<br />

spastic paraplegia. Nat. Genet. 29:326-331, 2001.

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