Ferritinopathy: Diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion body diseases

Acta Neuropathologica

Volumn 109, Issue 1, 2005, Pages 109-114

  Schröder, J Michael ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Ferritinopathy; Granular nuclear inclusion body disease; Multisystem disease; Muscle and nerve biopsy

Indexed keywords

FERRITIN; HYALIN; IRON;

AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BRAIN BIOPSY; CELL NUCLEUS INCLUSION BODY; CENTRAL NERVOUS SYSTEM DISEASE; CHROMOSOME 19; DEGENERATIVE DISEASE; EXON; GENE MUTATION; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; LIGHT CHAIN; MICROANALYSIS; MICROGLIA; MICROSCOPY; MOLECULAR GENETICS; MUSCLE BIOPSY; NERVE BIOPSY; OLIGODENDROGLIA; PERIPHERAL NERVE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN STRUCTURE; REACTION ANALYSIS; REVIEW; SKIN; SPINOCEREBELLAR DEGENERATION; SYMPTOMATOLOGY; TRINUCLEOTIDE REPEAT;

ADULT; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; FEMALE; FERRITINS; HUMANS; INTRANUCLEAR INCLUSION BODIES; IRON; MICROSCOPY, ELECTRON; MUSCLES; NEUROMUSCULAR DISEASES; SURAL NERVE;

EID: 14244264113     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-004-0949-5     Document Type: Review

References (22)

1. Abele M, Burk K, Andres F, Topka H, Laccone F, Bosch S, Brice A, Cancel G, Dichgans J, Klockgether T (1997) Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain 120:2141-2148 10.1093/brain/120.12.2141
2. Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH (2000) Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Genet 9:275-282 10.1093/hmg/9.2.275
3. Brulin P, Godfraind C, Leteurtre E, Ruchoux MM (2002) Morphometric analysis of ultrastructural vascular changes in CADASIL: Analysis of 50 skin biopsy specimens and pathogenic implications. Acta Neuropathol 104:241-248 12172909
4. Castellani RJ, Siedlak SL, Perry G, Smith MA (2000) Sequestration of iron by Lewy bodies in Parkinson's disease. Acta Neuropathol 100:111-114 10.1007/s00401005000
5. Crompton DE, Chinnery PF, Fey C, Curtis AR, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J (2002) Neuroferritinopathy: A window on the role of iron in neurodegeneration. Blood Cells Mol Dis 29:522-531 10.1006/bcmd.2002.0589
6. Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J (2001) Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 28:350-354 10.1038/ng571
7. Jellinger KA (1999) The role of iron in neurodegeneration: Prospects for pharmacotherapy of Parkinson's disease. Drugs Aging 14:115-140 1:CAS:528:DyaK1MXhslehsro%3D
8. Jellinger KA (2002) Disturbance of the nigro-amygdaloid connections in dementia with Lewy bodies. J Neurol Sci 193:157-158 10.1016/S0022-510X(01)00660-8
9. Jellinger KA (2003) How valid is the clinical diagnosis of Parkinson's disease in the community? J Neurol Neurosurg Psychiatry 74:1005-1006 10.1136/jnnp.74.7.1005
10. Kienzl E, Jellinger K, Stachelberger H, Linert W (1999) Iron as catalyst for oxidative stress in the pathogenesis of Parkinson's disease? Life Sci 65:1973-1976 10.1016/S0024-3205(99)00458-0
11. Lindenberg R, Rubinstein LJ, Herman MM, Haydon GB (1968) A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residuum of an old herpesvirus infection. Acta Neuropathol (Berl) 10:54-73
12. Lowe JS, Leigh N (2002) Disorders of movement and system disorders. In: Graham DI, Lantos PL (eds) Greenfield's neuropathology. Arnold, London, pp 325-430
13. Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19:333-344 10.1016/S0896-6273(00)80943-5
14. Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D (1995) Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 89:500-512 10.1007/s004010050281
15. Schröder JM (1982) Pathologie der Muskulatur. In: Doerr W, Seifert G (eds) Spezielle pathologische Anatomie, vol 15. Springer, Berlin Heidelberg NewYork, pp 658-663
16. Schröder JM, Krämer KG, Hopf HC (1985) Granular nuclear inclusion body disease: Fine structure of tibial muscle and sural nerve. Muscle Nerve 8:52-59
17. Schröder JM, Sellhaus B, Järg J (1995) Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Acta Neuropathol 89:116-121 10.1007/BF00296354
18. Sung JH (1980) Light, fluorescence, and electron microscopic features of neuronal intranuclear hyaline inclusions associated with multisystem atrophy. Acta Neuropathol (Berl) 50:115-120
19. Sung JH, Ramirez-Lassepas M, Mastri AR, Larkin SM (1980) 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 39:107-130 1:STN:280:Bi%2BC1cvhtFM%3D
20. Takahashi Y, Miyajima H, Shirabe S, Nagataki S, Suenaga A, Gitlin JD (1996) Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum Mol Genet 5:81-84 10.1093/hmg/5.1.81
21. Vidal R, Delisle MB, Rascol O, Ghetti B (2003) Hereditary ferritinopathy. J Neurol Sci 207:110-111 10.1016/S0022-510X(02)00435-5
22. Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB (2004) Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol 63:363-380 1:CAS:528:DC%2BD2cXjs1WgsL4%3D