Disease #01749 (HDLS (leukoencephalopathy, diffuse hereditary, with spheroid (HDLS)), OMIM:221820)

Official abbreviation HDLS
Name leukoencephalopathy, diffuse hereditary, with spheroid (HDLS)
OMIM ID 221820
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 1
Associated with 1 gene CSF1R
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00148989 - - - - - United States - - - - - HDLS - MAPT MAPT 1 4 Marc Cruts
00149325 - - Basque Country - - Spain white - - - - ?, HDLS - GRN GRN 1 1 Marc Cruts
00390053 IV-33 PubMed: Sundal 2019 large 4-generation family including 25 individuals from generation IV (23 unaffected); 10 affected (5F, 5M), 2 affacted individuals analysed M no Sweden - 57y - yes - HDLS Briefly, at age 46 this previously healthy manual worker suffered a progressive personality change (HP:0000751) with striking passivity and loss of responsibility at work and at home. At his first examination half a year after onset we observed a debilitating frontal syndrome with total loss of insight, along with discrete pyramidal (HP:0007256) and deep sensory signs. During the subsequent 2 years he was in a permanent hyperactive state (HP:0000752), incessantly walking, opening cupboards or clapping his hands, still with only moderate motor, sensory and extrapyramidal signs (HP:0002071). In the fourth year of his disease he had developed complete hemianopia (HP:0012377), and showed gradually increasing rigidity (HP:0002063) in all extremities, as well as primitive brain stem and grasp reflexes (HP:0002476). For 6 years he remained in a vegetative state (HP:0031358) with a general decortical type of rigidity, a weak doll’s eye reaction and spontaneous respiration of Cheyne-Stokes type (HP:0012196) until he succumbed from respiratory infections at 57 years of age. Five consecutive MRI examinations up to 26 months disease duration with DTI showed a symmetric leukoencephalopathy (HP:0002352) with an unusual feature, a progressive rim of decreased diffusion expanding centrifugally through the white matter from the periventricular area of the frontal and occipital horns, leaving apparently disorganized tissue behind the rim. AARS AARS 1 10 Rita Guerreiro
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