Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis

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Abstract

Bilateral striopallidodentate calcinosis (BSPDC, also known as Fahr's disease, a misnomer), is a rare disorder where bilateral, almost symmetric, calcium and other mineral deposits occur in subcortical nuclei and white matter. Neurological manifestations vary but movement disorders are the most common. Of the movement disorders, parkinsonism predominates. We describe 6 patients with BSPDC associated with parkinsonism. Of the 6 patients, one patient from an autosomal dominantly inherited family who responded to levodopa, showed Lewy bodies in substantia nigra neurons and changes consistent with BSPDC. Another patient, from the same family with clinical evidence of parkinsonism and radiological and neuropathological evidence of BSPDC, did not show Lewy bodies. Ten patients with BSPDC and parkinsonism (without evidence of parathyroid dysfunction) were found in the literature. When parkinsonism is associated with dementia and cerebellar signs, obtaining a CT scan may be helpful as BSPDC often presents with the above three conditions.

Section snippets

Case reports

Patient 1: The pedigree (Fig. 1, III-10) was identified when he presented with parkinsonian symptoms at age 56 to Movement Disorders Clinic, Lyans Veterans Administration Medical Center where he was evaluated and followed by one of the authors (ASW). The history in a chronological order indicates that the proband had a skull X-ray taken at age 42 subsequent to a fall. Bilateral calcium deposits in the basal ganglia were noticed on the film. Three years later, at age 45, he developed

Discussion

Ten cases of BSPDC with parkinsonism are reported in the literature (Table 1) [2], [4], [7], [8], [9], [13], [14], [17], [19]. We add 6 additional cases bringing the total to16. Francis [5] reported 4 patients with parkinsonism and schizophrenia and autosomal dominant BSPDC. Because the patients received dopamine receptor antagonists, the cases are not included in Table 1 as we could not decide from the case history whether the parkinsonism is drug induced or related to BSPDC per se. Of the 16

Acknowledgements

Authors gratefully acknowledge the help of Drs William M. Landau for referring patient 4, Stephen G. Reich for providing data on patient 6, Alice Lazzarini, PhD for the pedigree drawing, Glen Cryer for editorial assistance and the many members of the kindred and other patients for their understanding and cooperation.

References (43)

  • P. Martinelli et al.

    Familial idiopathic strio-pallido-dentate calcifications with late onset extrapyramidal syndrome

    Mov Disord

    (1993)
  • M. Kobari et al.

    Familial idiopathic brain calcification with autosomal dominant inheritance

    Neurology

    (1997)
  • T. Caraceni et al.

    Familial idiopathic basal ganglia calcification exhibiting dystonia musculorum deformans features

    Eur Neurol

    (1974)
  • M.G. Smits et al.

    Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance

    Eur Neurol

    (1983)
  • U. Aiello et al.

    A case of Fahr's disease: clinical and CT study

    Ital J Neurol Sci

    (1981)
  • Y. Harati et al.

    Adult onset idiopathic familial brain calcifications

    Arch Int Med

    (1984)
  • R.L. Friede et al.

    Idiopathic nonarteriosclerotic calcification of cerebral vessels

    Arch Neurol

    (1961)
  • S.J. Millen et al.

    Fahr's disease. An otolayngologic perspective

    Arch Otolaryngol

    (1982)
  • R. Sandyk

    Parkinsonism, gait apraxia and dementia associated with intracranial calcifications. A case report

    S Afr Med J

    (1983)
  • J.L. Cummings et al.

    Neuropsychiatric disturbances associated with idiopathic calcification of the basal ganglia

    Biol Psychiatry

    (1983)
  • G. Scotti et al.

    MR imaging in Fahr's disease

    J Comput Assist Tomogr

    (1985)

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