Neurodegeneration with brain iron accumulation on MRI: An adult case of α-mannosidosis

JIMD Reports

Volumn 4, Issue , 2012, Pages 99-102

  Zoons, Evelien ^a   de Koning, Tom J ^b   Abeling, Nico G G M ^a   Tijssen, Marina A J ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Basal ganglion; Iron accumulation; Lysosomal storage disease; Lysosomal storage disorder; Spinocerebellar ataxia

Indexed keywords

EID: 84908573651     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_78     Document Type: Chapter

References (11)

1. Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabas A, Pina MA, Calderon C (1999) Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. Childs Nerv Syst 15:369–371
2. Autti T, Joensuu R, Aberg L (2007) Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. Neuroradiology 49:571–578
3. Dietemann JL, Filippi de la Palavesa MM, Tranchant C, Kastler B (1990) MR findings in mannosidosis. Neuroradiology 32:485–487
4. Gregory A, Polster BJ, Hayflick SJ (2009) Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 46:73–80
5. Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM (2004) Adult alpha-mannosidosis: clinical progression in the absence of demyelination. Neurology 63:1744–1746
6. Johnstone D, Milward EA (2010) Molecular genetic approaches to understanding the roles and regulation of iron in brain health and disease. J Neurochem 113(6):1387–1402
7. Kjellman B, Gamstorp I, Brun A, Ockerman PA, Palmgren B (1969) Mannosidosis: a clinical and histopathologic study. J Pediatr 75:366–373
8. Malm D, Nilssen O (2008) Alpha-mannosidosis. Orphanet J Rare Dis 3:21
9. Niemann S, Beck M, Seidel G, Spranger J, Vieregge P (1996) Neurology of adult alpha-mannosidosis. J Neurol Neurosurg Psychiatry 61:116–117
10. Patlas M, Shapira MY, Nagler A, Sheffer R, Gomori JM (2001) MRI of mannosidosis. Neuroradiology 43:941–943
11. Sung JH, Hayano M, Desnick RJ (1977) Mannosidosis: pathology of the nervous system. J Neuropathol Exp Neurol 36:807–820