Neuromuscular findings in eight Italian families with neuroacanthocytosis

Neuroacanthocytosis Syndromes

Volumn , Issue , 2005, Pages 127-138

  Dotti, Maria Teresa ^a   Malandrini, Alessandro ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 34548402417     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/1-4020-2898-9_15     Document Type: Chapter

References (23)

1. Barnett MH, Yang F, Iland H, Pollard JD (2000) Unusual muscle pathology in McLeod syndrome. J Neurol Neurosurg Psychiatry 69:655-657.
2. Burbaud P, Rougier A, Ferrer X, Guehl D, Cuny E, Arne P, Gross Ch, Bioulac B (2002) Improvement of severe trunk spasms by bilateral high-frequency stimulation of the motor thalamus in a patient with chorea-acanthocytosis. Mov Dis 17:204-207.
3. Danek A, Tison F, Rubio JP, Oechsner M, Kalckreuth W, Monaco AP (2001) The chorea of McLeod syndrome. Mov Dis 16:882-889.
4. Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F et al (2001) McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 50:755-764.
5. Dobson-Stone C, Danek A, Rampoldi L, Hardie R et al (2002) Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10:773-781.
6. Dotti MT, Battisti C, Malandrini A, Federico A, Rubio JP, Curciarello G, Monaco AP (2000) McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene. Mov Dis 15:1282-1284.
7. Ferrer X, Julien J, Vital C, Lagueny A, Tison F (1990) Chorea-acanthocytosis. Rev Neurol 146:739-745.
8. Hardie RJ, Pullon H W H, Harding AE, Owen JS, Pires M, Daniels GL, Imai Y, Misra VP, King R H M, Jacobs JM, Tippett P, Duchen LW, Thomas PK, Marsden CD (1991) Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114:13-49.
9. Hirayama M, Hamano T, Shiratori M, Mutoh T, Kumano T, Aita T, Kuriyama M (1997) Chorea-acanthocytosis with polyclonal antibodies to ganglioside GM1. J Neurol Sci 151:23-24.
10. Jung HH, Russo D, Redman C, Brandner S (2001) Kell and XK immunohistochemistry in McLeod myopathy. Muscle Nerve 24:1346-1351.
11. Kawakami T, Takiyama Y, Sakoe K et al (1999) A case of McLeod syndrome with unusually severe myopathy. J Neurol Sci 166:36-39.
12. Limos LC, Ohnishi A, Sakai T, Fujii N, Goto I, Kuroiwa Y (1982) "Myopathic" changes in chorea-acanthocytosis. Clinical and histopathological studies. J Neurol Sci 55:49-58.
13. Malandrini A, Fabrizi GM, Palmeri S, Ciacci G, Salvatori C, Berti G, Bucalossi A, Federico A, Guazzi GC (1993) Chorea-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus. Acta Neuropathol 86:651-658.
14. Malandrini A, Fabrizi GM, Truschi F, Di Pietro G, Moschini F, Bartalucci P, Berti G, Salvatori C, Bucalossi A, Guazzi GC (1994) Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. J Neurol Sci 124:89-94.
15. Ohnishi A, Sato Y, Nagara H, Sakai T, Iwashita H, Kuroiwa Y, Nakamura T, Shida K (1981) Neurogenic muscular atrophy and low density of large fibres of sural nerve in chorea-acanthocytosis. J Neurol Neurosurg Psychiatry 44:645-648.
16. Rampoldi L, Dobson-Stone C, Rubio JP, Danek A et al (2001) A conserved sortingassociated protein is mutant in chorea-acanthocytosis. Nat Genet 28:119-120.
17. Rubio JP, Danek A, Dobson-Stone C, Chalmers R et al (1997) Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 61:899-908.
18. Sobue G, Mukai E, Fujii K, Mitsuma T, Takahashi A (1986) Peripheral nerve involvement in familial chorea-acanthocytosis. J Neurol Sci 76:347-356.
19. Sorrentino G, De Renzo A, Miniello S, Nori O, Bonavita V (1999) Late appearance of acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci 163:175-178.
20. Swash M, Schwartz MS, Carter ND, Heath R, Leak M, Rogers KL (1983) Benign X-linked myopathy with acanthocytes (McLeod syndrome), its relationship to X-linked muscular dystrophy. Brain 106:717-733.
21. Takashima H, Sakai T, Iwashita H, Matsuda Y, Tanaka K, Oda K, Okubo Y, Reid ME (1994) A family of McLeod syndrome, masquerading as chorea-acanthocytosis. J Neurol 124:56-60.
22. Vita G, Serra S, Dattola, R, Santoro M, Toscano A, Venuto C, Carrozza G, Baradello A (1989) Peripheral neuropathy in amyotrophic chorea-acanthocytosis. Ann Neurol 26:583-587.
23. Witt TN, Danek A, Reiter M, Heim MU, Dirschinger J, Olsen E G J (1992) McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. J Neurol 239:302-306.