Familial idiopathic brain calcification - A new and familial α-synucleinopathy?

European Neurology

Volumn 49, Issue 4, 2003, Pages 223-226

  Lhatoo, Samden D ^a   Perunovic, Branca ^a   Love, Seth ^a   Houlden, Henry ^b   Campbell, Malcolm J ^a  

^a FRENCHAY HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Brain calcification, familial; Synucleinopathy

Indexed keywords

ALPHA SYNUCLEIN;

ADULT; ARTICLE; BRAIN CALCIFICATION; CASE REPORT; CELL INCLUSION; FAMILIAL DISEASE; FAMILIAL IDIOPATHIC BRAIN CALCIFICATION; FAMILY STUDY; FEMALE; GLIA CELL; HUMAN; IDIOPATHIC DISEASE; MALE; MESENCEPHALON; NERVE CELL; OLIGODENDROGLIA; PONS; PRIORITY JOURNAL; PUTAMEN;

ADOLESCENT; ADULT; ALPHA-SYNUCLEIN; BRAIN; CALCINOSIS; CHILD; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NEURODEGENERATIVE DISEASES; NEUROFIBRILLARY TANGLES; NEUROGLIA; PEDIGREE; SENILE PLAQUES; SYNUCLEINS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0038300242     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000070189     Document Type: Article

References (14)

1. Lowenthal A, Bruyn GW: Calcification of the striopallidodentate system; in Vinken PJ, Bruyn GW (eds): Diseases of the Basal Ganglia. Amsterdam, North Holland Publishing Company, 1968, pp 703-725.
2. Kobari M, Nogawa S, Sugimoto Y, Fukuuchi Y: Familial idiopathic brain calcification with autosomal dominant inheritance. Neurology 1997;48:645-649.
3. Geschwind DA, Loginov M, Stern JM: Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet 1999;65:764-772.
4. Tu PH, Galvin JE, Baba M, et al: Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble α-synuclein. Ann Neurol 1998;44:415-422.
5. Langston JW, Sastry S, Chan P, Forno LS, Bolin LM, Di Monte DA: Novel alpha-synuclein-immunopositive proteins in brain samples from the Contursi kindred, Parkinson's and Alzheimer's disease. Exp Neurol 1998;154:684-690.
6. Baba M, Nakajo S, Tu PH: Aggregation of alpha-synuclein in Lewy bodies of sporadic Parkinson's disease and dementia with Lewy bodies. Am J Pathol 1998;152:879-884.
7. Newell KL, Boyer P, Gomez-Tortosa E, et al: Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. J Neuropathol Exp Neurol 1999;58:1263-1268.
8. Koller WC, Cochran JW, Klawans HL: Calcification of the basal ganglia: Computerized tomography and clinical correlation. Neurology 1979;29:328-333.
9. Fenelon G, Gray F, Paillard, et al: A prospective study of patients with CT detected pallidal calcifications. J Neurol Neurosurg Psychiatry 1993;56:622-625.
10. Sue CM, Crimmins DS, Soo YS, Pamphlett R, et al: Neuroradiological features of six kindreds with MELAS tRNA(Leu)A2343G point mutation: Implications for pathogenesis. J Neurol Neurosurg Psychiatry 1998;65:233-240.
11. Schulz JB, Dichgans D: Molecular pathogenesis of movement disorders: Are protein aggregates a common link in neuronal degeneration? Curr Opin Neurol 1999;12:433-439.
12. Maroteaux L, Campanelli JT, Scheller RH: Synuclein: A neuron specific protein localised to the nucleus and presynaptic nerve terminal. J Neurosci 1988;8:2804-2815.
13. 2: Selective inhibition of mammalian phospholipase D isoenzymes by alpha and beta synucleins. Biochemistry 1998;37:4901-4909.
14. Polymeropoulos MH, Lavedan C, Leroy E, et al: Mutation in the alpha synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.