Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry

• Published in: Movement disorders Vol. 16; no. 2; pp. 258 - 264
• Main Authors: Manyam, Bala V., Walters, Arthur S., Narla, Koteswara R.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01-03-2001; Wiley
• Subjects: Adult; Age Distribution; Atrophy - pathology; basal ganglia; bilateral striopallidodentate calcinosis (BSPDC); Biological and medical sciences; Brain Diseases - complications; Brain Diseases - diagnosis; Brain Diseases - epidemiology; Calcinosis - diagnosis; Calcinosis - epidemiology; Calcinosis - genetics; calcium; computed tomography; coordinate digitizer; Corpus Striatum - diagnostic imaging; Corpus Striatum - pathology; Dentate Gyrus - diagnostic imaging; Dentate Gyrus - pathology; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes; electronic planimeter; Fahr's disease; Female; Functional Laterality - physiology; Globus Pallidus - diagnostic imaging; Globus Pallidus - pathology; Humans; Male; Medical sciences; Middle Aged; Movement Disorders - diagnosis; Movement Disorders - epidemiology; Movement Disorders - etiology; Nervous system (semeiology, syndromes); Neurology; Registries; Severity of Illness Index; Thalamus - pathology; Tomography, X-Ray Computed; Human; Volumetric analysis; Nervous system diseases; Radiodiagnosis; Corpus striatum; Pallidum; Cerebral disorder; Involuntary movement; Symptomatology; Calcinosis; Central nervous system disease; Calcification; Computerized axial tomography; Diagnosis; Neurological disorder; Morphometry; Dentate nucleus
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.1049

Clinical features in bilateral striopallidodentate calcinosis (BSPDC), popularly referred to as Fahr's disease (five autosomal dominant families and eight sporadic cases, n = 38), recruited through a registry, are reported. Applying uniform criteria, cases reported in the literature (n = 61) were combined for detailed analysis. The mean (± S.D.) age of Registry patients was 43 ± 21 and that of literature was 38 ± 17. In combined data set (n = 99), 67 were symptomatic and 32 were asymptomatic. Of the symptomatic, the incidence among men was higher compared with women (45:22). Movement disorders accounted for 55% of the total symptomatic patients. Of the movement disorders, parkinsonism accounted for 57%, chorea 19%, tremor 8%, dystonia 8%, athetosis 5%, and orofacial dyskinesia 3%. Overlap of signs referable to different areas of central nervous system (CNS) was common. Other neurologic manifestations included: cognitive impairment, cerebellar signs, speech disorder, pyramidal signs, psychiatric features, gait disorders, sensory changes, and pain. We measured the total volume of calcification using an Electronic Planimeter and Coordinate Digitizer. Results suggest a significantly greater amount of calcification in symptomatic patients compared to asymptomatic patients. This study suggests that movement disorders are the most common manifestations of BSPDC, and among movement disorders, parkinsonism outnumber others. © 2001 Movement Disorder Society.