Familial idiopathic basal ganglia calcification: a challenging clinical–pathological correlation
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Familial idiopathic basal ganglia calcification (FIBGC) is characterized by brain calcium deposition and variable combinations of movement disorders, gait impairment, and neuropsychiatric symptoms [1, 2, 3, 5, 6, 7]. A locus was mapped on chromosome 14 , but it fails to account for disease in some families . Penetrance estimates are hampered by inconsistent clinical–radiological correlation, and few detailed pathological reports are available [4, 7]. Herein, we provide clinical, radiological, and pathological studies of a patient with FIBGC. We have previously reported this family, including one autopsy study [4, 7]. The patient signed informed consent.
KeywordsDystonia Globus Pallidus Dentate Nucleus Neuronal Dysfunction Cervical Dystonia
We thank Dr. David Welbourne and Audrey Strongosky for their help in obtaining the autopsy material, and Dr. Rosa Rademakers and Matt Baker for providing us with the DNA sample. CW is supported by the Swiss National Science Foundation (PBLAB-115478), Parkinson Switzerland, and the Robert H. and Clarice Smith and the M.L. Simpson Foundation Trust. KJS is supported by the German Research Foundation (DFG). ZKW and DWD are supported by the Morris K. Udall Center of Excellence for Parkinson’s Disease Research (P50-NS40256). DWD is supported by the Mayo Clinic ADRC grant P50-AG16574. ZKW and DWD are supported by the Pacific Alzheimer Research Foundation (PARF) grant C06-01. DFB is supported by the Mayo Clinic Jacksonville Research Committee CR10 program grant.
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