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NEURORADIOLOGY Table of Contents   
Year : 2004  |  Volume : 14  |  Issue : 4  |  Page : 383-384
FAHR disease : A rare neurodegenerative disorder


Department of Radiodiagnosis & Imaging, Gandhi Medical College & Associated Hamidia Hospital, Bhopal, India

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Keywords: Fahr Disease, basal ganglia, ataxia, athetosis, idiopathic, calcification

How to cite this article:
Malik R, Pandya V K, Naik D. FAHR disease : A rare neurodegenerative disorder. Indian J Radiol Imaging 2004;14:383-4

How to cite this URL:
Malik R, Pandya V K, Naik D. FAHR disease : A rare neurodegenerative disorder. Indian J Radiol Imaging [serial online] 2004 [cited 2019 Sep 20];14:383-4. Available from: http://www.ijri.org/text.asp?2004/14/4/383/28677

   Introduction Top


Fahr Disease is a rare degenerative neurological disorder characterized by the presence of abnormal calcium deposition and associated cell loss in the areas of brain that control movement, including basal ganglia and cerebral cortex. The condition was first described by Fahr in 1930. According to reports in medical literature, Fahr Disease is often familial. It is believed to have autosomal dominant inheritance but a few cases have been reported to have autosomal recessive inheritance and even some sporadic cases have been reported in literature. The association between the abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptible locus for Fahr Disease.


   Case report Top


A 36 year old woman presented with progressive deterioration of mentality and motor functions, extrapyramidal signs, dysarthria, ataxia, athetosis. Plain radiographs of the skull demonstrated irregular calcifications in bilateral fronto-parietal region of skull. A contrast enhanced CT scan head was done in Spiral CT scanner wipro GE which revealed bilaterally symmetrical non-enhancing hyperdense ( HU + 234) lesions s/o calcification, involving globus pallidus, putamen, caudate nucleus, internal capsule, thalami, dentate nucleus, cerebellum and subcortical white matter [Figure - 1] & [Figure - 2]. Blood chemistry revealed normal serum levels of calcium, phosphorus and alkaline phosphatase. The CT Scan findings when correlated with typical clinical history and normal blood chemistry was suggestive of Fahr Disease.


   Discussion Top


Fahr Disease or familial idiopathic basal ganglia calcification is characterized by bilateral basal ganglia clacification .The most common site of calcification is the globus pallidus . However additional areas of calcification are putamen, caudate nucleus, internal capsule, dentate nucleus, thalamus, cerebellum and cerebral white matter. The calcium deposits occur in the extracellular and extravascular space often surrounding the capillaries. It is not clear whether the calcification in Fahr Disease is a metastatic deposition, secondary to local disruption of blood brain barrier, or is due to disorder of neuronal calcium metabolism.

Typically the age at onset of clinical symptoms is 30 to 60 years. The clinical evolution is that of a degenerative disorder, rather than a developmental disorder. The core clinical features are dysarthria, extrapyramidal signs, ataxia, progressive deterioration of mentality, loss of motor accomplishments, symmetrical spastic paralysis, athetosis, eye impairment due to optic atrophy.

There is neither a cure for Fahr Disease, nor a standard course of treatment. The prognosis is variable and hard to predict.[6]

 
   References Top

1.Harrington, M. G.; Macpherson, P.; McIntosh, W. B.; Allam, B. F.; Bone, I. : The significance of the incidental finding of basal ganglia calcification on computed tomography. J.Neurol. Neurosurg. Psychiat. 44:-1168-1170, 1981.   Back to cited text no. 1    
2.Smits, M. G.; Gabreels, F. J. M.; Thijssen, H. O. M.; 't Lam, R. L.; Notermans, S. L. H.; ter Haar, B. G. A.; Prick, J. J. : Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance: report of three siblings. Europ. Neurol. 22: 58-64, 1983.   Back to cited text no. 2    
3.Billard, C.; Dulac, O.; Boulouche, J.; Echenne, B.; Lebon, P.; Motte, J.; Robain, O.; Santini, J. J. : Encephalopathy with calcifications of the basal ganglia in children: a reappraisal of Fahr's syndrome with respect to 14 new cases. Neuropediatrics 20: 12- 19, 1989.   Back to cited text no. 3    
4.Ellie, E.; Julien, J.; Ferrer, X. : Familial idiopathic striopallidodentate calcifications. Neurology 39: 381-385, 1989   Back to cited text no. 4    
5.Geschwind, D. H.; Loginov, M.; Stern, J. M. : Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am. J. Hum. Genet. 65: 764-772, 1999.   Back to cited text no. 5    
6.Brodaty, H.; Mitchell, P.; Luscombe, G.; Kwok, J. B. J.; Badenhop, R. F.; McKenzie, R.; Schofield, P. R. : 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. 110: 8-14, 2002.   Back to cited text no. 6    

Top
Correspondence Address:
R Malik
Department of Radiodiagnosis & Imaging, Gandhi Medical College & Associated Hamidia Hospital, Bhopal
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2]

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