All individuals with variants in gene JAM2

14 entries on 1 page. Showing entries 1 - 14.
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00286201 - - - M yes United Kingdom (Great Britain) Gypsy 20y-30y - - - IBGC - 1 1 Lucia Schottlaender
00286202 - - - - - - - - - - - IBGC - 2 1 Lucia Schottlaender
00286204 - - - F;M yes Northern Ireland Gypsy 40y-50y - - - IBGC - 1 4 Lucia Schottlaender
00286250 - - - - - - - - - - - IBGC - 1 1 Lucia Schottlaender
00287082 Fam1PatII2 PubMed: Cen 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier parents (first cousins) M yes China - - - - - PARK see paper; ..., Parkinsonism, slurred speech; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain 1 2 Johan den Dunnen
00287083 Fam1PatII3 PubMed: Cen 2020 sister F yes China - - - - - PARK see paper; ..., Parkinsonism, slurred speech, seizures; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain, pons, medulla 1 1 Johan den Dunnen
00287084 Fam2PatII2 PubMed: Cen 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousins) F yes China - - - - - PARK see paper; ..., numbness feet, dizziness (syncope); calcification basal ganglia, thalamus, dentate nuclei, cortex, subcortical white matter 1 1 Johan den Dunnen
00287085 Fam3PatII1 PubMed: Cen 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - PARK see paper; ..., Parkinsonism, slurred speech; calcification basal ganglia, thalamus, dentate nuclei, cortex, subcortical white matter, midbrain 2 1 Johan den Dunnen
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 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 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 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 1 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 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 1 1 Johan den Dunnen
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