PET findings and neuropsychological deficits in a case of Fahr's disease

Hempel, Albrecht; Henze, Marcus; Berghoff, Christopher R.; Garcia, Nohazarahit; Ody, Reinhard; Schröder, Johannes

doi:10.1016/s0165-1781(01)00308-0

Cited by 37 publications

(39 citation statements)

References 15 publications

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“…Classical and recent anatomical studies about the role of basal ganglia in movement coordination 22 , subcortical region in cognitive association and mood determination, and hypoxia in epileptic activity 23 , points to correlation between clinical features and calcifications site and consequently hypoperfused area 7,10 . in bones.…”

Section: Discussionmentioning

confidence: 98%

Computerized tomography findings in Fahr's syndrome

Faria

Pereira

Nanni

2004

Arq. Neuro-Psiquiatr.

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-We analyzed computerized tomography (CT) findings in six patients with Fahr's syndrome. They presented calcifications in basal ganglia, dentate nucleus, subcortical region and semioval center, due to alteration in calcium metabolism or due to senile relative hypoxemic state. The image pattern was not strictly related with etiology, although some differences in dystrophic senile calcifications (the only one present in semioval center and absent in subcortical region). CT is an easy exam, has maximum sensitivity and allows diagnosis, contributing to early treatment of many etiologies of Fahr's syndrome.

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Section: Discussionmentioning

confidence: 98%

Computerized tomography findings in Fahr's syndrome

Faria

Pereira

Nanni

2004

Arq. Neuro-Psiquiatr.

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“…[11,64] It has been suggested that the functional abnormalities leading to movement disorders, cognitive and psychiatric features in brain calcification probably result from the disruption of the basal ganglia-thalamocortical circuits. [65] In terms of genotype-phenotype correlation, one may hypothesise that the clinical presentation can vary depending on location of calcium deposits (e.g. striatum, cortical areas or dentate nucleus).…”

Section: Pseudohypoparathyroidismmentioning

confidence: 99%

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

Batla

Tai

Schottlaender

et al. 2017

Parkinsonism & Related Disorders

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“…Conversely, we observed a fair correlation between areas of cortical hypometabolism at [18F]FDG-PET, in the absence of calcifications or other morphological changes at the structural neuroimaging, and the patient's neuropsychological symptoms. These functional abnormalities probably result from the disruption of the basal ganglia-thalamocortical circuits, as previously reported [12,13]; another possible causative mechanism could be cerebello-cerebral diaschisis, a condition resulting from disconnection between the right cerebellar structures and the contralateral prefrontal cortex (in particular the gyrus frontalis medius and inferior), which has previously been associated with a language syndrome that nosologically resembles ‘dynamic aphasia' [14]. …”

Section: Discussionmentioning

confidence: 82%

Fahr's Disease Linked to a Novel <b><i>SLC20A2 </i></b>Gene Mutation Manifesting with Dynamic Aphasia

Brighina¹,

Saracchi²,

Ferri³

et al. 2014

Neurodegener Dis

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Background: Idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease, is a rare disorder characterized by widespread cerebral calcifications, an autosomal dominant pattern of inheritance and clinical and genetic heterogeneity. The recently identified IBGC gene, SLC20A2, encodes for type III sodium-dependent phosphate transporter 2 and its loss-of-function mutations may lead to the regional accumulation of inorganic phosphate in the brain, causing calcium phosphate deposition. Objective: To describe the clinical, neuroimaging and genetic findings in an Italian family with IBGC. Methods: The family members underwent clinical and radiological examination in order to diagnose IBGC according to standard criteria and screening for SLC20A2 gene mutations. The affected subjects also underwent neuropsychological longitudinal assessments and functional neuroimaging investigations. Results: The 2 affected family members harbored a novel missense mutation, G1618A, in the SLC20A2 gene, leading to gly540-to-arg (G540R) substitution in a highly conserved residue. This is the first SLC20A2 gene mutation associated with familial IBGC reported in the Italian population and is damaging according to all prediction programs. In the index case we observed a fair correlation between cortical areas with no calcifications but with significant hypometabolism at [18F]FDG-PET (inferior frontal premotor cortex) and the neuropsychological picture dominated by dynamic aphasia and buccofacial apraxia. Conclusion: These findings expand the catalog of SLC20A2 mutations identified to date and add dynamic aphasia to the spectrum of neuropsychological deficits reported in IBGC, supporting the use of functional neuroimaging studies for better investigation of genotype-phenotype correlations.

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PET findings and neuropsychological deficits in a case of Fahr's disease

Cited by 37 publications

References 15 publications

Computerized tomography findings in Fahr's syndrome

Computerized tomography findings in Fahr's syndrome

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

Fahr's Disease Linked to a Novel <b><i>SLC20A2 </i></b>Gene Mutation Manifesting with Dynamic Aphasia

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