Clinical and radiological features of fahr’s disease: a mimicker of varied neurological manifestations
Keywords:Computerized tomography, Fahr’s disease, Intracranial calcifications, Parkinsonism
Fahr’s disease is a disorder characterized clinically by a wide spectrum of varied clinical-neurological and psychiatric manifestations occurring secondary to intracranial calcifications with subsequent neuronal cell loss. Though the disease can present in early childhood or adolescence the usual age of manifestation is around 4th-5th decades of life. We report a series of 6 Fahr’s disease cases with respect to different clinical and radiological manifestations. The details of different clinical manifestations with respect to the disease were studied. The frequency of symptoms, the radiological pattern of intracranial calcifications and the association of different parameters were studied. Progressive cognitive decline and Parkinsonism was detected in all the patients but in none of them it was the chief presenting feature. Seizure was presenting symptoms in 3 patients. Chorea was encountered in 2 patients as the presenting complaint. Mild wide-based cerebellar ataxic gait was found in only one patient but other cerebellar signs were absent. Athetosis, dyskinesia, or dystonia was present in none of our patient. CT scan revealed symmetric basal nuclei and cerebellar calcification in all patients. The disease needs a high index of suspicion and CT brain scanning should always be performed in patients younger than 50 years who present with refractory seizures, Parkinsonism and cognitive decline. However radiological findings did not predict the presentation and outcome.
ANPA Committee on Research, A.R.O.T., Lauterbach EC, Cummings JL, Duffy J, Coffey CE, Kaufer D, Lovell M, et al. Neuropsychiatric correlates and treatment of lenticulostriatal diseases: a review of the literature and overview of research opportunities in Huntington's, Wilson's, and Fahr's diseases. J Neuropsych Clini Neurosci. 1998;10(3):249-66.
König P. Psychopathological alterations in cases of symmetrical basal ganglia sclerosis. Biolog Psych. 1989 Feb 15;25(4):459-68.
Fenelon G, Gray F, Paillard F, Thibierge M, Mahieux F, Guillani A. A prospective study of patients with CT detected pallidal calcifications. J Neurol, Neurosurg Psych. 1993 Jun 1;56(6):622-5.
Shigeyuki O. Imaging of bilateral striopallidodentate calcinosis. Clin Nucl Med 2002;27:721-724.
Brodaty H, Mitchell P, Luscombe G, Kwok JB, Badenhop RF, McKenzie R, 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. Human Genet. 2002 Jan 1;110(1):8-14.
Fahr T. Idiopathische verkalkung der hirngefasse. Zentralbl allg pathol. 1930;50:129-33.
Şenoğlu M, Tuncel D, Orhan FÖ, YUKSEL Z, GOKÇE M. Fahr’s syndrome: a report of two cases. Firat Tip Dergisi. 2007;12:70-2.
Manyam BV, Walters AS, Keller IA, Ghobrial M. Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis. Parkinson Related Disor. 2001 Oct 1;7(4):289-95.
Preusser M, Kitzwoegerer M, Budka H, Brugger S. Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. Neuropathology. 2007 Oct;27(5):453-6.
Martinelli P, Giuliani S, Ippoliti M, Martinelli A, Sforza A, Ferrari S. Familial idiopathic strio‐pallido‐dentate calcifications with late onset extrapyramidal syndrome. Mov Disorders: Office J Movem Disor Soci. 1993;8(2):220-2.
Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. New England J Medi. 1985 Jul 18;313(3):139-45.
Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). The Am J Human Genet. 1999 Sep 1;65(3):764-72.
Manyam BV. What is and what is not ‘Fahr's disease’. Parkinson Relat Disor. 2005 Mar 1;11(2):73-80.
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb 1;14(1):11-22.
Verulashvili IV, Glonti LS, Miminoshvili DK, Maniia MN, Mdivani KS. Basal ganglia calcification: clinical manifestations and diagnostic evaluation. Georg Medi News. 2006 Nov(140):39-43.
Amin OS. Fahr's disease and frontal lobe-like cognitive dysfunction. Psych Behav Sci. 2012 Jul 1;2(3):119-22.
Manyam BV, Bhatt MH, Moore WD, Devleschoward AB, Anderson DR, Calne DB. Bilateral striopallidodentate calcinosis: Cerebrospinal fluid, imaging, and cerebrospinal fluid, imaging, and electrophysiological studies. Ann Neurol: Offic J American Neurolog Assoc Child Neurol Soc. 1992 Apr;31(4):379-84.
Abubakar SA, Saidu S. Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease): a case report and review of the literature. Anna Afr Medi. 2012 Oct 1;11(4):234.
Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Movement disorders: office J Movem Disor Soc. 2001 Mar;16(2):258-64.
Bonelli RM, Cummings JL. Frontal-subcortical dementias. Neurologist. 2008 Mar 1;14(2):100-7.
Albert ML, Feldman RG, Willis AL. Thesubcortical dementia'of progressive supranuclear palsy. J Neurol, Neurosurg Psych. 1974 Feb 1;37(2):121-30.
Tweedy JR, Langer KG, McDowell FH. The effect of semantic relations on the memory deficit associated with Parkinson's disease. J Clini Experime Neuropsychol. 1982 Sep 1;4(3):235-47.
Hoque MA, Siddiqui MR, Arafat Y, Khan SU, Rahman KM, Mondol BA, et al. Fahr's disease: a very rare cause of epilepsy. Mymensingh Medi J. 2010 Jan;19(1):127-9.
Ashtari F, Fatehi F. Fahr’s disease: variable presentations in a family. Neurolog Scie. 2010 Oct 1;31(5):665-7.
Skvortsov IA, Rudenskaia GE, Karaseva AN, Vel'tishchev I. Effectiveness of the therapeutic use of complexones in various diseases of the extrapyramidal system in children. J Nevropatol Psikhiat Ime SS Korsak. 1987;87(10):1457-62.