张嵘

• 1:北京航天总医院神经内科

摘要(Abstract)：

<正>两侧对称性大脑基底节钙化可由病理、生理多种原因造成,可伴有(无)神经病学和精神病学异常,是一种临床综合征。其中特发性两侧对称性基底节钙化由Fahr于1930年首次报道,故也称Fahr病。国内1983年由蒋雨平首次报道[1],目前头颅CT显示双侧基底节对称性钙化为本病重要诊断依据。Fahr病属罕见病,呈散发或家族性发病。本文就近年来家族性特发性基底节钙化研究进展进行综述。

关键词(KeyWords)： 对称性;家族性;特发性;基底节钙化

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 张嵘

参考文献(References)：

• [1]蒋雨平,秦芝九,印美.特发性两侧对称性大脑基底节钙化症[J].中国神经精神疾病杂志,1983,9(2):95-97.
• [2]Kobari M,Nogawa S,Sugi moto Y,et al.Familial idiopathicbrain calcification with autosomal dominant inheritance[J].Neurology,1997,48(3):645-649.
• [3]Smits MG,Gabreels FJ,Thijssen HO,et al.Progressive idio-pathic strio-pallido-dentate calcinosis(Fahrs disease)with auto-somal recessive inheritance eur[J].Neurol,1983,22:58-64.
• [4]段文澜,刘芳,钟绍,等.特发性双侧对称性大脑基底节钙化症(Fahr病)伴染色体异常1例[J].上海医科大学学报,1998,25(4):284.
• [5]Geschwind DH,Loginov M,Stern J M,et al.Identification ofa locus on chromosome 14q for idiopathic basal ganglia Calcifi-cation(Fahr disease)[J].Am.J.Hum.Genet,1999,65:764-772.
• [6]Oliveira JRM,Spiteri E,Sobrido MJ,et al.Genetic heteroge-neity in familial idiopathic basal ganglia calcification(Fahr dis-ease)[J].Neurology,2004,63:2 165-2 167.
• [7]Oliveira JRM,Sobrido MJ,Spiteri E,et al.Analysis of candi-date genes at the IBGC1 locus associated with idiopathic basalganglia calaification(“Fahr`s disease”)[J].J Mol Neurosci,2007,33:151-154.
• [8]Brodaty H,Mitchell P,Luscombe G,et al.Familial idiopathicbasal ganglia calcification(fahr`s disease)without neurological,cognitive and psychiatric symptoms is not linked to the IBGC1locus on chromosome 14q[J].Hum Genet,2002,110:8-14.
• [9]Matsui K,Yamada M,Kobayashi T.An autopsy case of Fahrdisease(infantile form)[J].No To Hattatsu,1992,24(4):358-363.
• [10]Yamada N,Hayashi T.Asymtomatic familial basal gangliacalcification with autosomal dominant inheritance:a family re-port[J].No To Hattatsu,2000,32(6):515-519.
• [11]Ellie E,Julien J,Ferrer X.Familial idiopathic striopallidoden-tate calcifications[J].Neurology,1989,39:381-385.
• [12]Chabot B,Roulland C,Dollfus S.Schizophrenia and familialidiopathic basal ganglia calcification:a case report[J].Poy-chol Med,2001,31:741-747.
• [13]Manyam BV,Walters AS,Narla KR.Bilateral striopal-lidodentate calcinosis:clinical characteristics of patients seeninaregistry[J].Mov Disord,2001,16(2):258-264.
• [14]Boller F,Boller M,Gilbert J,et al.Familial idiopathic cere-bral calcifications.Journal of neurology[J].neurosurgery,and psychiatry,1977,40:280-285.
• [15]刘红光,卢明花,万其军,等.Fahr病影像学诊断及病理学分析[J].中华放射学杂志,2006,40(5):474-478.
• [16]汤建中,张仲慧,王燕玲,等.Fahr病的临床与影像学表现(附3例报告)[J].中风与神经疾病杂志,2005,22(3):266-267.
• [17]Norman D,Diamond C,Boyd D.Relative detectablility of in-tracranial calcifications on computed tomography and skull ra-diography[J].J Comput Assist Tomogr,1978,2(1):61-64.
• [18]Puvanendran K,Low CH,Boey HK,et al.Basal ganglia calci-fication on computer tomographic scan.A clinical and radio-logical correlation[J].Acta Neurol Scand,1982,66(3):309-315.
• [19]Larsen TA,Dunn HG,Jan JE,et al.Dystonia and calcifica-tion of the basal ganglia[J].Neurology,1985,35:533-537.
• [20]Fenelon G,Gray F,Paillard F,et al,A prospective study ofpatients with CT detected pallidal calcifications[J].J NeurolNeurosurg Psychitry,1993,56(6):622-625.
• [21]Ogi S,Fukumitsu N,Tsuchida D,et al.I maging of bilateralstriopallidodentate calcinosis[J].Clin Nucl Med,2002,27(10):721-724.
• [22]Uygur GA,Liu Y,Hell man RS,et al.Evaluation of regionalcerebral blood flowin massive intracerebral calcifications[J].J Nucl Med,1995,36(4):610-612.
• [23]Benke T,Karner E,Seppi K,et al.Subacute dementia andi maging correlates in a case of Fahr disease[J].J Neurol Neu-rosurg Psychiatry,2004,75:1 163-1 165.
• [24]Le Ber I,Marie RM,Chabot B,et al.Neuropsychological and18FDG-PETstudies in a family with idiopathic basal gangliacalcifications[J].Journal of the Neurological Sciences,2007,258:115-122.
• [25]Moskowitz MA,Winickoff RN,Heinz ER.Familial calcifica-tion of the basal ganglions A Metabolic and genetic study[J].N Engl J Med,1971,285:72-77.