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

Movement Disorders : Official Journal of the Movement Disorder Society
P MartinelliS Ferrari

Abstract

A family with autosomal dominant inheritance of idiopathic strio-pallidodentate calcifications and late onset of extrapyramidal symptoms is reported. Clinical features consisted of parkinsonism in one member and postural tremor in two. Depression and dysarthria were present in all cases. All symptomatic members showed a peculiar biochemical abnormality consisting of reduced 25-OH vitamin D3 with normal levels of 1,25(OH)2 vitamin D3, suggesting an inborn error of Vitamin D metabolism. The biochemical, clinical, and genetic pattern of this family distinguishes this syndrome from the larger group of secondary familial basal ganglia calcifications.

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Citations

Sep 5, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Katrina Gwinn-Hardy
Apr 11, 2001·Movement Disorders : Official Journal of the Movement Disorder Society·B V ManyamK R Narla
Jul 1, 1997·Movement Disorders : Official Journal of the Movement Disorder Society·L Derex, P Trouillas
Oct 28, 2005·Journal of Neural Transmission·R M BonelliD A Yurgelun-Todd
Apr 12, 2011·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Sara BonazzaSabina Capellari
Apr 18, 2001·Psychiatry Research·P BrambillaJ C Soares
May 10, 2001·Parkinsonism & Related Disorders·B V. ManyamM Ghobrial
Mar 26, 2011·Neurosurgery Clinics of North America·David R VagoEmily Stern
Oct 7, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Ilaria TagliaMaria Teresa Dotti
Mar 1, 2005·Parkinsonism & Related Disorders·Bala V Manyam
Apr 28, 2006·Neuroreport·Allan KalueffPentii Tuchimaa
Dec 5, 2006·Current Opinion in Clinical Nutrition and Metabolic Care·Allan V Kalueff, Pentti Tuohimaa

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