Disease #05693 (brain calcification (calcification, brain))

Official abbreviation brain calcification
Name calcification, brain
OMIM ID -
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene JAM2
Associated tissues -
Disease features -
Remarks -
Date created 2020-02-11 20:36:37 +01:00 (CET)
Date last edited N/A


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00289372 Fam1PatII2 PubMed: Schottlaender 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes England - - - - - brain calcification normal birth and early milestones; onset childhood, cerebellar ataxia, cognitive decline; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria, nystagmus); Parkinsonism rigidity, bradykinesia.; dystonia generalized; seizures, ophthalmoplegia, PEG inserted in advance stage; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter JAM2 JAM2 1 1 Johan den Dunnen
00289373 Fam2PatIII2 PubMed: Schottlaender 2020 3-generation family, 4 affected, (F, 3M) unaffected heterozygous carrier parents M yes Northern Ireland - - - - - brain calcification normal birth and early milestones; onset late 20s, cognitive decline, depression; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia); Parkinsonism hypophonia, hypomimia, bradykinesia; dystonia limb dystonia and orofacial dyskinesias; PEG inserted in advance stage; memory decline with severe impaired recall; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter JAM2 JAM2 1 4 Johan den Dunnen
00289374 Fam2PatIII3 PubMed: Schottlaender 2020 - F yes Northern Ireland - - - - - brain calcification normal birth and early milestones; onset late 30s, difficulty walking; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia); Parkinsonism hypophonia, hypomimia, bradykinesia; dystonia limb dystonia and orofacial dyskinesias; became anarthric in advanced stage; unable to comment on cognition due to anarthria; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter JAM2 JAM2 2 1 Johan den Dunnen
00289375 Fam2PatIII4 PubMed: Schottlaender 2020 - M yes Northern Ireland - - - - - brain calcification normal birth and early milestones; onset teenage, depression, dysarthria; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria); Parkinsonism rigidity, bradykinesia; no dystonia; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter JAM2 JAM2 1 1 Johan den Dunnen
00289376 Fam2PatIII5 PubMed: Schottlaender 2020 - M yes United States - - - - - brain calcification normal birth and early milestones; onset teenage, depression, dysarthria; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria); Parkinsonism rigidity, bradykinesia; no dystonia; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter JAM2 - - 1 Johan den Dunnen
00289377 Fam3PatII1 PubMed: Schottlaender 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - brain calcification normal birth and early milestones; onset childhood, autism spectrum disorder; no pyramidal syndrome; cerebellar syndrome (upper and lower limb mild ataxia, nystagmus; no Parkinsonism ; no dystonia; autism spectrum disorder; decline in academic performance; MRI brain basal ganglia, and frontal cortex JAM2 JAM2 2 1 Johan den Dunnen
00289378 Fam4PatII3 PubMed: Schottlaender 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - brain calcification normal birth and early milestones; onset early childhood, seizures; no pyramidal syndrome; no cerebellar syndrome; no Parkinsonism ; no dystonia; normal cognitive function; MRI brain basal ganglia, dentate nucleus and cerebellar hemispheres JAM2 JAM2 1 1 Johan den Dunnen
00457970 FamPatII3 PubMed: Zhao 2022 3-generation family, affected brother/sister, unaffected heterozygous carrier parents M - China - - - - - brain calcification see paper; ..., calcification bilateral globus pallidus/thalamus/cerebellum; no cognitive impairment; no ataxia; no dysarthria; no headache; no seizures; no stroke-like episodes; ECG normal; echocardiography mild pulmonary hypertension; abdominal ultrasonography normal; total calcification score 20; mitochondrial disorder unlikely - CMPK2 1 2 Johan den Dunnen
00457971 FamPatII5 PubMed: Zhao 2022 sister F - China - - - - - brain calcification see paper; ..., calcification caudate nucleus/periventricular white matter/cerebral cortex; cognitive impairment; ataxia; dysarthria; no seizures; no headache; no stroke-like episodes; ECG normal; echocardiography normal; abdominal ultrasonography normal; total calcification score 52; possible mitochondrial disorder - CMPK2 1 1 Johan den Dunnen
00457972 FamPatII1 PubMed: Zhao 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - brain calcification see paper; ..., brain calcification; cognitive impairment; ataxia; dysarthria; no seizures; no headache; no stroke-like episodes; EEG normal; EMG normal; total calcification score 57; mitochondrial disorder unlikely - CMPK2 2 1 Johan den Dunnen
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