Basal ganglia calcification as a putative cause for cognitive decline

Oliveira, João Ricardo Mendes de; Oliveira, Matheus Fernandes de

doi:10.1590/S1980-57642013DN70200003

ABSTRACT

Basal ganglia calcifications (BGC) may be present in various medical conditions, such as infections, metabolic, psychiatric and neurological diseases, associated with different etiologies and clinical outcomes, including parkinsonism, psychosis, mood swings and dementia. A literature review was performed highlighting the main neuropsychological findings of BGC, with particular attention to clinical reports of cognitive decline. Neuroimaging studies combined with neuropsychological analysis show that some patients have shown progressive disturbances of selective attention, declarative memory and verbal perseveration. Therefore, the calcification process might represent a putative cause for dementia syndromes, suggesting a probable link among calcinosis, the aging process and eventually with neuronal death. The increasing number of reports available will foster a necessary discussion about cerebral calcinosis and its role in determining symptomatology in dementia patients

Key words:
basal ganglia; dementia; calcinosis

RESUMO

As calcificações dos gânglios da base (BGC) podem estar presentes em diversas condições médicas, como infecções, doenças metabólicas, psiquiátricas e neurológicas, associadas a diferentes etiologias e desfechos clínicos, incluindo parkinsonismo, psicose, alterações de humor e demência. Realizamos revisão da literatura destacando os principais achados neuropsicológicos das BGC, com especial atenção para os relatos de declínio cognitivo. Estudos de neuroimagem combinados com análise neuropsicológica mostram que alguns pacientes apresentam distúrbios progressivos de atenção seletiva, memória declarativa e perseverança verbal. Portanto, o processo de calcificação pode representar uma causa imputável para síndromes demenciais, sugerindo uma provável ligação entre a calcinose, o processo de envelhecimento e a morte neuronal. O número crescente de relatos disponíveis promoverá uma discussão necessária sobre calcinose cerebral e seu papel na determinação da sintomatologia em pacientes demenciais.

Palavras-chave:
núcleos da base; demência; calcificações

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REFERENCES

Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord 2005;11:73-80.
Geschwind DH, 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.
Gomille T, Meyer RA, Falkai P, Gaebel W, Königshausen T, Christ F. Prevalence and clinical significance of computerized tomography verified idiopathic calcinosis of the basal ganglia. Radiologe 2001;41:205-210.
Brodaty H, Mitchell P, Luscombe G, Kwok JJ, Badenhop RF, 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. Hum Genet 2002;110:8-14.
Cummings JL, Gosenfeld LF, Houlihan JP, McCaffrey T. Neuropsychiatric disturbances associated with idiopathic calcification of the basal ganglia. Biol Psychiatry 1983;18:591-601.
Oliveira JRM, Spiteri E, Sobrido MJ, Hopfer S, Klepper J, et al. Genetic heterogeneity in Familial Idiopathic basal Ganglia Calcification ("Fahr's disease"). Neurology 2004;63:2165-2167.
Lemos RR, Oliveira MF, Oliveira JRM. Reporting a new mutation at the SLC20A2 gene in familial idiopatic basal ganglia calcification. Eur J Neurol 2013;20:e43-4
Oliveira JRM, Lemos RR, Oliveira MF. Updating Genetic studies in familial idiopathic basal ganglia calcification. Southern Med J 2009;102:989.
Oliveira MF, Steinberg SS, Oliveira JRM. The challenging interpretation of genetic and neuroimaging features in basal ganglia calcification. Gen Hosp Psychiatry 2013;35:210-211.
Cartier L, Passig C, Gormaz A, López J. Neuropsychological and neurophysiological features of Fahr's disease. Rev Med Chil 2002;130:1383-1390.
Sobrido MJ, Hopfer S, Geschwind DH. 2007. Idiopathic basal ganglia calcification. GeneReviews: Genetic Disease Online Reviews. http://www.geneclinics.org
» http://www.geneclinics.org
Saiki M, Saiki S, Sakai K, et al. Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification. Mov Disord 2007;22:1027-1030.
Delazer M, Domahs F, Lochy A, Karner E, Benke T, Poewe W. Number processing and basal ganglia dysfunction: a single case study. Neuropsychologia 2004;42:1050-1062.
Lopez-Villegas D, Kulisevsky J, Deus J, et al. Neuropsychological alterations in patients with computed tomography-detected basal ganglia calcification. Arch Neurol 1996;53:251-256.
Konupcíková K, Masopust J, Valis M, Horácek J. Dementia in a patient with Fahr's syndrome. Neuro Endocrinol Lett 2008;29:431-434.
Weisman DC, Yaari R, Hansen LA, Thal LJ. Density of the brain, decline of the mind: an atypical case of Fahr disease. Arch Neurol2007;64:756-757.
Paschali A, Lakiotis V, Messinis L, et al. Dopamine transporter SPECT/CT and perfusion brain SPECT imaging in idiopathic basal ganglia calcinosis. Clin Nucl Med 2009;34:421-423.
Oliveira MF, Oliveira JRM. A Comorbid Case of Familial Idiopathic Basal Ganglia Calcification ("Fahr's Disease") Associated with Post-Polio Syndrome. J Neuropsychiatry Clin Neurosci 20121;24:E14-15.
Hempel A, Henze M, Berghoff C, et al. PET findings and neuropsychological deficits in a case of Fahr's disease. Psychiatry Res 2001;108: 133-140.
Yulug B. A Case of Idiopathic Basal Ganglia Calcification Presenting With only Acting-Out Attacks and Mild Cognitive Impairment: PET Findings. J. Neuropsychiatry Clin Neurosci 2007;19:348-349.
LeBer I, Marié RM, Chabot B, Lalevée C, Defer GL. Neuropsychological and 18FDG-PET studies in a family with idiopathic basal ganglia calcifications. J Neurol Sci 2007;258:115-122.
Benke T, Karner E, Seppi K, Delazer M, Marksteiner J, Donnemiller E. Subacute dementia and imaging correlates in a case of Fahr's disease. J Neurol Neurosurg Psychiatry 2004;75:1163-1165.

Publication Dates

Publication in this collection
Apr-Jun 2013

History

Received
28 Nov 2012
Accepted
18 Feb 2013

This is an open-access article distributed under the terms of the Creative Commons Attribution License

[1] Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord 2005;11:73-80.

[2] Geschwind DH, 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.

[3] Gomille T, Meyer RA, Falkai P, Gaebel W, Königshausen T, Christ F. Prevalence and clinical significance of computerized tomography verified idiopathic calcinosis of the basal ganglia. Radiologe 2001;41:205-210.

[4] Brodaty H, Mitchell P, Luscombe G, Kwok JJ, Badenhop RF, 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. Hum Genet 2002;110:8-14.

[5] Cummings JL, Gosenfeld LF, Houlihan JP, McCaffrey T. Neuropsychiatric disturbances associated with idiopathic calcification of the basal ganglia. Biol Psychiatry 1983;18:591-601.

[6] Oliveira JRM, Spiteri E, Sobrido MJ, Hopfer S, Klepper J, et al. Genetic heterogeneity in Familial Idiopathic basal Ganglia Calcification ("Fahr's disease"). Neurology 2004;63:2165-2167.

[7] Lemos RR, Oliveira MF, Oliveira JRM. Reporting a new mutation at the SLC20A2 gene in familial idiopatic basal ganglia calcification. Eur J Neurol 2013;20:e43-4

[8] Oliveira JRM, Lemos RR, Oliveira MF. Updating Genetic studies in familial idiopathic basal ganglia calcification. Southern Med J 2009;102:989.

[9] Oliveira MF, Steinberg SS, Oliveira JRM. The challenging interpretation of genetic and neuroimaging features in basal ganglia calcification. Gen Hosp Psychiatry 2013;35:210-211.

[10] Cartier L, Passig C, Gormaz A, López J. Neuropsychological and neurophysiological features of Fahr's disease. Rev Med Chil 2002;130:1383-1390.

[11] Sobrido MJ, Hopfer S, Geschwind DH. 2007. Idiopathic basal ganglia calcification. GeneReviews: Genetic Disease Online Reviews. http://www.geneclinics.org
» http://www.geneclinics.org

[12] Saiki M, Saiki S, Sakai K, et al. Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification. Mov Disord 2007;22:1027-1030.

[13] Delazer M, Domahs F, Lochy A, Karner E, Benke T, Poewe W. Number processing and basal ganglia dysfunction: a single case study. Neuropsychologia 2004;42:1050-1062.

[14] Lopez-Villegas D, Kulisevsky J, Deus J, et al. Neuropsychological alterations in patients with computed tomography-detected basal ganglia calcification. Arch Neurol 1996;53:251-256.

[15] Konupcíková K, Masopust J, Valis M, Horácek J. Dementia in a patient with Fahr's syndrome. Neuro Endocrinol Lett 2008;29:431-434.

[16] Weisman DC, Yaari R, Hansen LA, Thal LJ. Density of the brain, decline of the mind: an atypical case of Fahr disease. Arch Neurol2007;64:756-757.

[17] Paschali A, Lakiotis V, Messinis L, et al. Dopamine transporter SPECT/CT and perfusion brain SPECT imaging in idiopathic basal ganglia calcinosis. Clin Nucl Med 2009;34:421-423.

[18] Oliveira MF, Oliveira JRM. A Comorbid Case of Familial Idiopathic Basal Ganglia Calcification ("Fahr's Disease") Associated with Post-Polio Syndrome. J Neuropsychiatry Clin Neurosci 20121;24:E14-15.

[19] Hempel A, Henze M, Berghoff C, et al. PET findings and neuropsychological deficits in a case of Fahr's disease. Psychiatry Res 2001;108: 133-140.

[20] Yulug B. A Case of Idiopathic Basal Ganglia Calcification Presenting With only Acting-Out Attacks and Mild Cognitive Impairment: PET Findings. J. Neuropsychiatry Clin Neurosci 2007;19:348-349.

[21] LeBer I, Marié RM, Chabot B, Lalevée C, Defer GL. Neuropsychological and 18FDG-PET studies in a family with idiopathic basal ganglia calcifications. J Neurol Sci 2007;258:115-122.

[22] Benke T, Karner E, Seppi K, Delazer M, Marksteiner J, Donnemiller E. Subacute dementia and imaging correlates in a case of Fahr's disease. J Neurol Neurosurg Psychiatry 2004;75:1163-1165.

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