Fahr病一家系临床分析
|
摘要
目的：
探讨Fahr病的临床特点,提高广大临床医师对Fahr病的认识。
方法：
通过对一家族性Fahr病进行家系调查,并复习相关文献,对Fahr病的诊断标准、遗传学特点、病理改变、影像学表现及临床特征作一阐述。
结果：
该组病例符合家族性Fahr病诊断标准,属于常染色体显性遗传。
结论：
Fahr病是因自发性的基底节及基底节外区域钙化所引起的神经、精神和认知障碍的一种临床罕见中枢神经系统疾病。
Objective:
To explore the clinical features of Fahr's disease and enhance the clinician's understanding of the disease.
Method:
Through a familial survey of Fahr's disease and review of relevant literature, We expound the diagnostic criteria, genetic characteristics, pathology, imaging findings and clinical characteristics of Fahr's disease.
Results:
The cases are accord with the diagnostic criteria of familial Fahr's disease and are autosomal dominant.
Conclutions:
Fahr's disease is a rare clinical entity characterized by neurological, psychiatric, and cognitive abnormalities related to symmetric and bilateral calcifications of the basal ganglia and other regions.
探讨Fahr病的临床特点,提高广大临床医师对Fahr病的认识。
方法：
通过对一家族性Fahr病进行家系调查,并复习相关文献,对Fahr病的诊断标准、遗传学特点、病理改变、影像学表现及临床特征作一阐述。
结果：
该组病例符合家族性Fahr病诊断标准,属于常染色体显性遗传。
结论：
Fahr病是因自发性的基底节及基底节外区域钙化所引起的神经、精神和认知障碍的一种临床罕见中枢神经系统疾病。
Objective:
To explore the clinical features of Fahr's disease and enhance the clinician's understanding of the disease.
Method:
Through a familial survey of Fahr's disease and review of relevant literature, We expound the diagnostic criteria, genetic characteristics, pathology, imaging findings and clinical characteristics of Fahr's disease.
Results:
The cases are accord with the diagnostic criteria of familial Fahr's disease and are autosomal dominant.
Conclutions:
Fahr's disease is a rare clinical entity characterized by neurological, psychiatric, and cognitive abnormalities related to symmetric and bilateral calcifications of the basal ganglia and other regions.
引文
[1]Fahr TH. Idiopatische verkalkung der hirngeffasse. Zentralbl Allg Pathol, 1930,50:129-133.
[2]Benke T, Karner E, Seppi K, et al. Subacute dementia and imaging correlates in a case of Fahr's disease[J]. J Neurol Neurosurg Psychiatry,2004, 75(8):1163-1165.
[3]蒋雨平.临床神经疾病学[M].上海：上海医科大学出版社,1999.278-279.
[4]Geschwind DH, Loginov M, Stern JM. Identificatitm of a locus on chromosome 14q for idiopathic basal ganglia calcification(Fahr disease)[J]. Am J Hum Genet,1999,65:764-772.
[5]Oliveira JR, Sobrido MJ, Spiteri E, et al. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")[J]. J Mol Neurosci 2007,33:151-154.
[6]Brodaty H, Mitchell P, Luscombe G, et al. Familial idiopathic basal ganglia calcification(Fahr's disease) without neurological,cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q[J]. HumGenet,2002,110(1):8-14.
[7]Wszolek ZK, Tsuboi Y, Broderick DF, et al. Large family with segmental dystonia-plus and cerebral and cerebral calcinosis possible linkage to chromosome 8[abstract]. Neurology,2003,60(suppl 1):A272.
[8]Volpato CB, De Grandi A, Buffone E, et al.2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family[J]. J Mol Neurosci 2009,39(3):346-353.
[9]代小华,崔小妞,徐海波等.家族型Fahr病一家系九例[J].中华医学遗传性杂志,2008,25(6)：722.
[10]Haqiwara N, Ooboshi H, Ishibashi M, et al. Elevated cerebrospinal fluid lactate levels and the pathomechanism of calcification in Fahr's disease[J]. Eur J Neurol,2006,13(5):539-543.
[11]Koeller WC, Cochran JM, Klawans HL. Calcificaton of the basal ganglia: Computerized tomography and clinical correlation[J]. Neurology,1999,29: 328.
[12]Le Ber I, Marie RM, Lalevee C, et al. Famlilial Idiopathic striatopallido-dentate calcifications:clinical and brain imaging study in a family[J]. Rev Neurol(Paris),2003,159(1):43-49.
[13]Narita K, Murata T, Ito T, et al. A case of diffuse neurofibrillary tangles with calcification [J]. Psychiatry Clin Neurosci,2002,56(1):117-120.
[14]Bottcher J, Sauner D, Jentsch A, et al. Visualization of symmetric-striopall idodentate calcinosis by using high-resolution susceptibility-weighted MR imaging[J]. Nervenarzt,2004,75(4):355-361.
[15]李小元,陈先文Fahr病的临床与病因学[J].脑与神经疾病杂志,2008,16(3)：239-240.
[16]Hoque MA, Siddiqui MR, Arafat Y, et al. Fahr's Disease:A very rare cause of epilepsy[J]. Mymensingh Med J,2010,19(1):127-129.
[17]Mahy N, Prats A, Riveros A, et al. Basal ganglia calcification induced by excitotoxicity:an experimental model characterised by electron microscopy and X-ray microanalysis[J]. Acta Neuropathol,1999,98(3):217.
[18]Rossi M, Morena M, Zanardi M. Calcification of the basal ganglia and Fahr disease.Report of two clinical cases and review of the literature[J]. Recenti Prog Med,1993,84(3):192.
[19]吴永峻,陈武标,田国强.颅内钙化的MRI多序列研究[J].广东医学院报,2005,23(4)368-341.
[20]黄福元,耿道颖,沈天真.Fahr病的CT和MRI诊断[J].医学影像学杂志,2001,11(5)：288-289.
[21]Ozerov SS, Semenova ZB, Zubairaev MS, et al. Concurrence of Fahr's disease with cerebellar tumors[J]. Zh Vopr Neirokhir Im N N Burdenko,2004, (4):34-35;discussion 35-36.
[22]舒红格,漆剑频,朱文珍等.磁敏感成像在颅内钙化灶和铁沉积鉴别中的运用[J].华中科技大学学报(医学版),2009,38(1)：87-90.
[23]Paschali A, Lakiotis V, Messinis L, et al. Dopamine transporter SPECT/CT and perfusion brain SPECT imaging in idiopathic basal ganglia calcinosis[J]. Clin Nucl Med,2009,34(7):421-423.
[24]Uygur GA, Liu Y, Hellman RS, et al. Evaluation of regional cerebral blood flow in massive intracerebral calcifications [J]. J NeurolMed,1995, 36:610-612.
[1]Manyam BV. What is and what is not'Fahr's disease'[J]. Parkinsonism Relet Disord,2005,11(2):73-80.
[2]Benke T, Kamer E, Seppi K, et al. Subacute dementia and imaging correlates in a case of Fahr's disease[J]. J Neurol Neurosurg Psychiatry,2004,75(8): 1163-1165.
[3]Fahr TH. Idiopatische verkalkung der hirngeffasse. Zentralbl Allg Pathol, 1930,50:129-133.
[4]Manyam BV, Walters AS, Keller IA,et al. Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis[J]. Parkinsonism Relat Disord,2001,7(4):289-295.
[5]Haqiwara N, Ooboshi H, Ishibashi M, et al. Elevated cerebrospinal fluid lactate levels and the pathomechanism of calcification in Fahr's disease[J]. Eur J Neurol,2006,13(5):539-543.
[6]Koeller WC, Cochran JM, Klawans HL. Calcificaton of the basal ganglia: Computerized tomography and clinical correlation[J]. Neurology,1999,29: 328.
[7]Cartier L, Passig C, Gormaz A, et al. Meuropsychological and neurophysiological features of Fahr's disease[J]. Rev med Chil,2002,130(12): 1383-1390.
[8]Le Ber Ⅰ, Marie RM, Lalevee C, et al. Famlilial Idiopathic striatopallido-dentate calcifications:clinical and brain imaging study in a family [J]. Rev Neurol(Paris),2003,159(1):43-49.
[9]Narita K, Murata T, Ito T, et al. A case of diffuse neurofibrillary tangles with calcification [J]. Psychiatry Clin Neurosci,2002,56(1):117-120.
[10]Bottcher J, Sauner D, Jentsch A, et al. Visualization of symmetric-striopall idodentate calcinosis by using high resolution susceptibility weighted MR imaging[J]. Nervenarzt,2004,75(4):355-361.
[11]李小元,陈先文Fahr病的临床与病因学[J].脑与神经疾病杂志,2008,16(3)：239-240.
[12]Meyer RA, Gomille T, Falkai P, et al. Prevalence and clinical significance of computerized tomography verified idiopathic calcinosis of the basal ganglia[J]. Radiologe,2001,41(2):205-210.
[13]Nomoto N, Sugimo H, Iguchi H, et al. A case of Fahr's disease presenting" diffuse neurofibriary tangles with calcification"[J]. Rinsho Shinkeigaku,2002, 42(8):745-749.
[14]吴永峻,陈武标,田国强.颅内钙化的MRI多序列研究[J].广东医学院报,2005,23(4)：368-341.
[15]黄福元,耿道颖,沈天真Fahr病的CT和MRI诊断[J].医学影像学杂志,2001,11(5)：288-289.
[16]Ozerov SS, Semenova ZB, Zubairaev MS, et al. Concurrence of Fahr's disease with cerebellar tumors[J]. Zh Vopr Neirokhir Im N N Burdenko,2004, (4): 34-35; discussion 35-36.
[17]Gupta RK, Rao SB, Jain R, et al. Differentiation of calcification from chronic hemorrhage with corrected gradient echo phase imaging[J]. J Comput Assist Tomogr,2001,25(5):698-704.
[18]舒红格,漆剑频,朱文珍等.磁敏感成像在颅内钙化灶和铁沉积鉴别中的运用[J].华中科技大学学报(医学版),2009,38(1)：87-90.
[19]杨昂,张雪林.磁敏感加权成像相位图对脑内顺磁性物质与逆磁性物质的鉴别诊断[J].中华放射学杂志,2009,43(6)：590-594.
[20]Paschali A, Lakiotis V, Messinis L, et al. Dopamine transporter SPECT/CT and perfusion brain SPECT imaging in idiopathic basal ganglia calcinosis[J]. Clin Nucl Med,2009,34(7):421-423.
[21]Uygur GA, Liu Y, Hellman RS, et al. Evaluation of regional cerebral blood flow in massive intracerebral calcifications [J]. J NeurolMed,1995,36:610-612.
[22]Hoque MA, Siddiqui MR, Arafat Y, et al. Fahr's Disease:A very rare cause of epilepsy[J]. Mymensingh Med J,2010,19(1):127-129.
[23]Brodaty H, Mitchell P, Luscombe G, et al. Familial idiopathic basal ganglia calcification(Fahr's disease) without neurological,cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q[J]. HumGenet,2002,110(1):8-14.
[24]Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry[J]. Mov Disord,2001, 16(2):258-264.
[25]Ellie E, Julien J, Ferrer X. Familial idiopathic striopallidodentate calcifications [J]. Neurology,1989,39:381-385.
[26]Chabot B, Roulland C, Dollfus S. Schizophrenia and familial idiopathic basal ganglia calcification:a case report[J]. Psychol Med,2001,31(4):741-747.
[27]Yoshikawa H, Abe T. Transient parkinsonism in bilateral striopallidodentate calcinosis[J]. Pediatr Neurol,2003,29(1):75-77.
[28]Modrego PJ, Mojonero J, Serrano M, et al. Fahr's syndrome presenting with pure and progressive presenile dementia[J]. Neurol Sci,2005,26(5):367-369.
[29]Curtis AR, Fey C, Morris CM, et al. Mutation in the gene enco-ding ferritin light polypeptide causes dominant adult-onset basal ganglia disease[J]. Nat Genet,2001,28(4):350-354.
[30]Warren JD, Mummery CJ, Al-Din AS, et al. Corticobasal degeneration syndrome with basal ganglia calcification:Fahr's disease as corticobasal look-alike[J]. Mov Disord,2002,17(3):563-567.
[31]Watanabe Y, Shimizu Y, Urakami K, et al. Vertical ophthalmoplegia in a demented a patient with striatopallidodentate calcification[J]. psychiatry Clin Neurosci,2003,57(4):447-450.
[32]Geschwind DH, Loginov M, Stem JM. Identificatitm of a locus on chromosome 14q for idiopathic basal ganglia calcification(Fahr disease)[J]. Am J Hum Genet,1999,65:764-772.
[33]Oliveira JR, Sobrido MJ, Spiteri E, et al. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")[J]. J Mol Neurosci 2007,33:151-154.
[34]Wszolek ZK, Tsuboi Y, Broderick DF, et al. Large family with segmental dystonia-plus and cerebral and cerebral calcinosis possible linkage to chromosome 8[abstract]. Neurology,2003,60(suppl 1):A272.
[35]Volpato CB, De Grandi A, Buffone E, et al.2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family[J]. J Mol Neurosci 2009,39(3):346-353.
[36]代小华,崔小妞,徐海波,等.家族型Fahr病一家系九例[J].中华医学遗 传性杂志,2008,25(6)：722.
[37]蒋雨平.临床神经疾病学[M].上海：上海医科大学出版社,1999：278-279.
[2]Benke T, Karner E, Seppi K, et al. Subacute dementia and imaging correlates in a case of Fahr's disease[J]. J Neurol Neurosurg Psychiatry,2004, 75(8):1163-1165.
[3]蒋雨平.临床神经疾病学[M].上海：上海医科大学出版社,1999.278-279.
[4]Geschwind DH, Loginov M, Stern JM. Identificatitm of a locus on chromosome 14q for idiopathic basal ganglia calcification(Fahr disease)[J]. Am J Hum Genet,1999,65:764-772.
[5]Oliveira JR, Sobrido MJ, Spiteri E, et al. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")[J]. J Mol Neurosci 2007,33:151-154.
[6]Brodaty H, Mitchell P, Luscombe G, et al. Familial idiopathic basal ganglia calcification(Fahr's disease) without neurological,cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q[J]. HumGenet,2002,110(1):8-14.
[7]Wszolek ZK, Tsuboi Y, Broderick DF, et al. Large family with segmental dystonia-plus and cerebral and cerebral calcinosis possible linkage to chromosome 8[abstract]. Neurology,2003,60(suppl 1):A272.
[8]Volpato CB, De Grandi A, Buffone E, et al.2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family[J]. J Mol Neurosci 2009,39(3):346-353.
[9]代小华,崔小妞,徐海波等.家族型Fahr病一家系九例[J].中华医学遗传性杂志,2008,25(6)：722.
[10]Haqiwara N, Ooboshi H, Ishibashi M, et al. Elevated cerebrospinal fluid lactate levels and the pathomechanism of calcification in Fahr's disease[J]. Eur J Neurol,2006,13(5):539-543.
[11]Koeller WC, Cochran JM, Klawans HL. Calcificaton of the basal ganglia: Computerized tomography and clinical correlation[J]. Neurology,1999,29: 328.
[12]Le Ber I, Marie RM, Lalevee C, et al. Famlilial Idiopathic striatopallido-dentate calcifications:clinical and brain imaging study in a family[J]. Rev Neurol(Paris),2003,159(1):43-49.
[13]Narita K, Murata T, Ito T, et al. A case of diffuse neurofibrillary tangles with calcification [J]. Psychiatry Clin Neurosci,2002,56(1):117-120.
[14]Bottcher J, Sauner D, Jentsch A, et al. Visualization of symmetric-striopall idodentate calcinosis by using high-resolution susceptibility-weighted MR imaging[J]. Nervenarzt,2004,75(4):355-361.
[15]李小元,陈先文Fahr病的临床与病因学[J].脑与神经疾病杂志,2008,16(3)：239-240.
[16]Hoque MA, Siddiqui MR, Arafat Y, et al. Fahr's Disease:A very rare cause of epilepsy[J]. Mymensingh Med J,2010,19(1):127-129.
[17]Mahy N, Prats A, Riveros A, et al. Basal ganglia calcification induced by excitotoxicity:an experimental model characterised by electron microscopy and X-ray microanalysis[J]. Acta Neuropathol,1999,98(3):217.
[18]Rossi M, Morena M, Zanardi M. Calcification of the basal ganglia and Fahr disease.Report of two clinical cases and review of the literature[J]. Recenti Prog Med,1993,84(3):192.
[19]吴永峻,陈武标,田国强.颅内钙化的MRI多序列研究[J].广东医学院报,2005,23(4)368-341.
[20]黄福元,耿道颖,沈天真.Fahr病的CT和MRI诊断[J].医学影像学杂志,2001,11(5)：288-289.
[21]Ozerov SS, Semenova ZB, Zubairaev MS, et al. Concurrence of Fahr's disease with cerebellar tumors[J]. Zh Vopr Neirokhir Im N N Burdenko,2004, (4):34-35;discussion 35-36.
[22]舒红格,漆剑频,朱文珍等.磁敏感成像在颅内钙化灶和铁沉积鉴别中的运用[J].华中科技大学学报(医学版),2009,38(1)：87-90.
[23]Paschali A, Lakiotis V, Messinis L, et al. Dopamine transporter SPECT/CT and perfusion brain SPECT imaging in idiopathic basal ganglia calcinosis[J]. Clin Nucl Med,2009,34(7):421-423.
[24]Uygur GA, Liu Y, Hellman RS, et al. Evaluation of regional cerebral blood flow in massive intracerebral calcifications [J]. J NeurolMed,1995, 36:610-612.
[1]Manyam BV. What is and what is not'Fahr's disease'[J]. Parkinsonism Relet Disord,2005,11(2):73-80.
[2]Benke T, Kamer E, Seppi K, et al. Subacute dementia and imaging correlates in a case of Fahr's disease[J]. J Neurol Neurosurg Psychiatry,2004,75(8): 1163-1165.
[3]Fahr TH. Idiopatische verkalkung der hirngeffasse. Zentralbl Allg Pathol, 1930,50:129-133.
[4]Manyam BV, Walters AS, Keller IA,et al. Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis[J]. Parkinsonism Relat Disord,2001,7(4):289-295.
[5]Haqiwara N, Ooboshi H, Ishibashi M, et al. Elevated cerebrospinal fluid lactate levels and the pathomechanism of calcification in Fahr's disease[J]. Eur J Neurol,2006,13(5):539-543.
[6]Koeller WC, Cochran JM, Klawans HL. Calcificaton of the basal ganglia: Computerized tomography and clinical correlation[J]. Neurology,1999,29: 328.
[7]Cartier L, Passig C, Gormaz A, et al. Meuropsychological and neurophysiological features of Fahr's disease[J]. Rev med Chil,2002,130(12): 1383-1390.
[8]Le Ber Ⅰ, Marie RM, Lalevee C, et al. Famlilial Idiopathic striatopallido-dentate calcifications:clinical and brain imaging study in a family [J]. Rev Neurol(Paris),2003,159(1):43-49.
[9]Narita K, Murata T, Ito T, et al. A case of diffuse neurofibrillary tangles with calcification [J]. Psychiatry Clin Neurosci,2002,56(1):117-120.
[10]Bottcher J, Sauner D, Jentsch A, et al. Visualization of symmetric-striopall idodentate calcinosis by using high resolution susceptibility weighted MR imaging[J]. Nervenarzt,2004,75(4):355-361.
[11]李小元,陈先文Fahr病的临床与病因学[J].脑与神经疾病杂志,2008,16(3)：239-240.
[12]Meyer RA, Gomille T, Falkai P, et al. Prevalence and clinical significance of computerized tomography verified idiopathic calcinosis of the basal ganglia[J]. Radiologe,2001,41(2):205-210.
[13]Nomoto N, Sugimo H, Iguchi H, et al. A case of Fahr's disease presenting" diffuse neurofibriary tangles with calcification"[J]. Rinsho Shinkeigaku,2002, 42(8):745-749.
[14]吴永峻,陈武标,田国强.颅内钙化的MRI多序列研究[J].广东医学院报,2005,23(4)：368-341.
[15]黄福元,耿道颖,沈天真Fahr病的CT和MRI诊断[J].医学影像学杂志,2001,11(5)：288-289.
[16]Ozerov SS, Semenova ZB, Zubairaev MS, et al. Concurrence of Fahr's disease with cerebellar tumors[J]. Zh Vopr Neirokhir Im N N Burdenko,2004, (4): 34-35; discussion 35-36.
[17]Gupta RK, Rao SB, Jain R, et al. Differentiation of calcification from chronic hemorrhage with corrected gradient echo phase imaging[J]. J Comput Assist Tomogr,2001,25(5):698-704.
[18]舒红格,漆剑频,朱文珍等.磁敏感成像在颅内钙化灶和铁沉积鉴别中的运用[J].华中科技大学学报(医学版),2009,38(1)：87-90.
[19]杨昂,张雪林.磁敏感加权成像相位图对脑内顺磁性物质与逆磁性物质的鉴别诊断[J].中华放射学杂志,2009,43(6)：590-594.
[20]Paschali A, Lakiotis V, Messinis L, et al. Dopamine transporter SPECT/CT and perfusion brain SPECT imaging in idiopathic basal ganglia calcinosis[J]. Clin Nucl Med,2009,34(7):421-423.
[21]Uygur GA, Liu Y, Hellman RS, et al. Evaluation of regional cerebral blood flow in massive intracerebral calcifications [J]. J NeurolMed,1995,36:610-612.
[22]Hoque MA, Siddiqui MR, Arafat Y, et al. Fahr's Disease:A very rare cause of epilepsy[J]. Mymensingh Med J,2010,19(1):127-129.
[23]Brodaty H, Mitchell P, Luscombe G, et al. Familial idiopathic basal ganglia calcification(Fahr's disease) without neurological,cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q[J]. HumGenet,2002,110(1):8-14.
[24]Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry[J]. Mov Disord,2001, 16(2):258-264.
[25]Ellie E, Julien J, Ferrer X. Familial idiopathic striopallidodentate calcifications [J]. Neurology,1989,39:381-385.
[26]Chabot B, Roulland C, Dollfus S. Schizophrenia and familial idiopathic basal ganglia calcification:a case report[J]. Psychol Med,2001,31(4):741-747.
[27]Yoshikawa H, Abe T. Transient parkinsonism in bilateral striopallidodentate calcinosis[J]. Pediatr Neurol,2003,29(1):75-77.
[28]Modrego PJ, Mojonero J, Serrano M, et al. Fahr's syndrome presenting with pure and progressive presenile dementia[J]. Neurol Sci,2005,26(5):367-369.
[29]Curtis AR, Fey C, Morris CM, et al. Mutation in the gene enco-ding ferritin light polypeptide causes dominant adult-onset basal ganglia disease[J]. Nat Genet,2001,28(4):350-354.
[30]Warren JD, Mummery CJ, Al-Din AS, et al. Corticobasal degeneration syndrome with basal ganglia calcification:Fahr's disease as corticobasal look-alike[J]. Mov Disord,2002,17(3):563-567.
[31]Watanabe Y, Shimizu Y, Urakami K, et al. Vertical ophthalmoplegia in a demented a patient with striatopallidodentate calcification[J]. psychiatry Clin Neurosci,2003,57(4):447-450.
[32]Geschwind DH, Loginov M, Stem JM. Identificatitm of a locus on chromosome 14q for idiopathic basal ganglia calcification(Fahr disease)[J]. Am J Hum Genet,1999,65:764-772.
[33]Oliveira JR, Sobrido MJ, Spiteri E, et al. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")[J]. J Mol Neurosci 2007,33:151-154.
[34]Wszolek ZK, Tsuboi Y, Broderick DF, et al. Large family with segmental dystonia-plus and cerebral and cerebral calcinosis possible linkage to chromosome 8[abstract]. Neurology,2003,60(suppl 1):A272.
[35]Volpato CB, De Grandi A, Buffone E, et al.2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family[J]. J Mol Neurosci 2009,39(3):346-353.
[36]代小华,崔小妞,徐海波,等.家族型Fahr病一家系九例[J].中华医学遗 传性杂志,2008,25(6)：722.
[37]蒋雨平.临床神经疾病学[M].上海：上海医科大学出版社,1999：278-279.