Progressive Idiopathic Strio-Pallido-Dentate Calcinosis (Fahr’s Disease) with Autosomal Recessive Inheritance

Smits, Minke; Gabreëls, F.J.M.; Thijssen, H.O.M.; Lam, Ryan; Notermans, S. L. H.; Haar, B. G. A. ter; Prick, J J G

doi:10.1159/000115537

Cited by 45 publications

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“…Intracranial calcifi cations may be detected on conventional skull radiographs and computerized tomography (CT) [7]. Brain perfusion single-photon emission computerized tomography (SPECT) with 99 m Tc-D,Lhexamethylpropylene amine oxime (99 m Tc-HMPAO) is useful in demonstrating regional cerebral blood fl ow [8,9].…”

Section: Introductionmentioning

confidence: 99%

The clinical utility of 99mTc-HMPAO SPECT in Fahr’s disease

et al. 2008

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Fahr's disease is a rare neurodegenerative syndrome, characterized by massive symmetrical intracerebral calcifications of the basal ganglia, dentate nuclei of the cerebellum, and the adjacent parenchyma. Computerized tomography (CT) is considerably more sensitive to detect these intracranial calcifications than other imaging modalities. The clinical, CT scan, and 99(m)Tc-D,L-hexamethylpropylene amine oxime (99(m)Tc-HMPAO) brain perfusion single-photon emission computerized tomography (SPECT) findings in a 42-year-old woman with Fahr's disease are reported, and the clinical utility of 99(m)Tc-HMPAO SPECT findings in Fahr's disease is discussed in this article. In conclusion, 99(m)Tc-HMPAO brain perfusion SPECT seems to be useful in the clinical approach to Fahr's disease, and may provide more specific and clinically relevant information when compared with anatomical imaging.

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Section: Introductionmentioning

confidence: 99%

The clinical utility of 99mTc-HMPAO SPECT in Fahr’s disease

et al. 2008

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“…An autosomal dominant pattern of inheritance has been described in ten out of 11 families with familial IBGC (Ellie et al 1989;Manyam et al 1992;Flint and Goldstein 1992;Kobari et al 1997) and an autosomal recessive pattern in one family (Smits et al 1983). Recently, a locus for IBGC has been identified on chromosome 14q in a large multigenerational pedigree (Geschwind et al 1999).…”

Section: Introductionmentioning

confidence: 99%

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q

et al. 2001

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Idiopathic basal ganglia calcification (IBGC) is characterised by radiological, neurological, cognitive and psychiatric abnormalities. The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1). We identified two siblings, from a large multigenerational pedigree, who had both been diagnosed with radiological IBGC, dementia, bipolar affective disorder and Parkinsonism. We assessed (1) other family members to determine whether these four phenotypes were co-segregating as symptoms of IBGC, and (2) possible IBGC linkage to the IBGC1 locus on chromosome 14q or to any known or potential dementia genes. Nine second-generation and 21 third-generation members received radiological, neurological, neuropsychological and psychiatric assessments. We genotyped all family members for microsatellite markers at the IBGC1 locus and polymorphisms of the ApoE, VLDL, alpha1-ACT, BChE-K, APP, PS1, PS2 and tau genes and tested these for linkage to IBGC, dementia and bipolar disorder. Of the ten family members with radiological intracranial calcification, all except the two index cases were normal. There was no significant association between IBGC status and severe cognitive impairment or dementia ( P=0.335) or bipolar affective disorder or Parkinsonism ( P=1.0). Linkage to the IBGC1 locus was excluded. Of the eight dementia gene markers tested, the only positive LOD score was for the ApoE epsilon4 polymorphism and dementia/severe cognitive impairment. We have identified a form of IBGC in which calcification is inherited independently of neurological, cognitive and psychiatric symptoms. This may represent a second locus for this disorder.

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“…In the first case, patient was 24 years with psychosis and there was no involvement of extrapyramidal tract [1]. Although FD may be associated with familial background, but in our cases there was no association [18,19]. Initially the patient was prescribed haloperidol, resperidone and later olanzapine, as there was a diagnosis of schizophrenia like psychosis.…”

Section: Importance Of Differential Diagnosis In Fahr's Diseasementioning

confidence: 58%

“…Psychiatric manifestations are due to subarachnoid space dilatation, apart from extensive calcification [5]. A number of scientific literatures documented different forms of FD -autosomal dominant [18], sporadic [1] and autosomal recessive [19]. There are just a few reports of this condition from the Indian subcontinent [20][21][22].…”

Section: Introductionmentioning

confidence: 99%

Varied Neuro-Psychiatric Manifestations of Farh's Disease (FD):A Report of Two Cases

Srivastava¹,

Sahi²,

Mehdi³

2014

CMRA

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Fahr's syndrome is relatively rare neuropsychiatric disease characterized by bilateral symmetrical basal ganglia intracranial calcification. This disease has varied neuro psychiatric manifestation ranging from neurological, cognitive, and psychiatric manifestations. Here we are representing two cases. In the first case, a 24-year-old male with Fahr's disease (FD), presenting with schizophrenia like psychosis which was not responding to medication, his neurological examination was normal and CT scan of brain revealed symmetrical large areas and foci of calcification in bilateral basal ganglia. Another case was a 70 year old lady presenting with gradual onset of dementia like features, there were no apparent neurological deficit and CT scan brain revealed bilateral basal ganglia calcification. Both the cases on screening did not reveal any evidence in the other family members. Farh's disease (FD) has pronounced positive brain imaging findings along with neuro psychiatric manifestations. We reported sporadic cases of FDs with its neuropsychology and radiological findings.

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Progressive Idiopathic Strio-Pallido-Dentate Calcinosis (Fahr’s Disease) with Autosomal Recessive Inheritance

Cited by 45 publications

References 0 publications

The clinical utility of 99mTc-HMPAO SPECT in Fahr’s disease

The clinical utility of 99mTc-HMPAO SPECT in Fahr’s disease

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q

Varied Neuro-Psychiatric Manifestations of Farh's Disease (FD):A Report of Two Cases

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