Document Detail

Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia.
MedLine Citation:
PMID:  11113220     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To describe a new familial association of late-onset dementia, patchy leukoencephalopathy, intracerebral hemorrhages, bilateral occipital calcifications (BOC), and external carotid artery dysplasia (ECAD). METHODS: At age 62, the proband, who was of Spanish descent, had left temporal hemorrhage in a background of progressive mental deterioration. Neuroimaging revealed fine tram-line BOC, extensive leukoencephalopathy, and bilateral ECAD. Biologic screening for celiac disease was negative. Skin biopsy with ultrastructural study revealed heretofore unreported changes in the basal lamina of capillaries, with multilayered appearance and round-shaped microcalcifications. Of 19 next-of-kin who survived beyond 60 years of age, six had brain disorders; four of the six presented at least three components of the syndrome. The proband's mother had died at age 83 with profound dementia; one sister, who was diagnosed with dementia with BOC and leukoencephalopathy at age 67, died 2 years later from intracerebral hemorrhage; a brother had an occipital hemorrhage at age 58, at which time BOC and leukoencephalopathy were discovered; and another brother died after a minor stroke at age 70 with dementia, leukoaraiosis, BOC, and ECAD. A proband's cousin also had an unexplained ischemic stroke at age 55, but without other features of the entity. In no subject was there evidence of seizures, facial angioma, or intracranial vascular malformation, and arterial hypertension was neither constant nor severe. CONCLUSION: These clinical, neuroradiologic, and histologic features suggest a new familial cerebrovascular entity with widespread microvascular calcifications and autosomal (presumably dominant) inheritance. We suggest the acronym FOCHS-LADD, for familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, arterial dysplasia, and dementia.
S Iglesias; F Chapon; J C Baron
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neurology     Volume:  55     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2000-12-20     Completed Date:  2001-01-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1661-7     Citation Subset:  AIM; IM    
INSERM U.320 and Services de Neurologie, CHU de Caen, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Aged, 80 and over
Calcinosis / genetics*,  pathology*
Carotid Artery Diseases / genetics*,  pathology*
Cerebral Hemorrhage / genetics*,  pathology*
Dementia / genetics*,  pathology*
Dementia, Vascular / genetics*,  pathology*
Magnetic Resonance Imaging
Middle Aged
Skin / pathology
Erratum In:
Neurology 2001 Mar 27;56(6):823

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Rebleeding, secondary ischemia, and timing of operation in patients with subarachnoid hemorrhage.
Next Document:  Subtraction peri-ictal SPECT is predictive of extratemporal epilepsy surgery outcome.