All individuals with variants in gene GFAP

89 entries on 1 page. Showing entries 1 - 89.
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00001636 - PubMed: Lines 2012 - F no - - - - - - MFDGA;MFDM IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX; no seizures 1 1 Johan den Dunnen
00226256 - - - M - Germany - - - - - ALXDRD - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00274176 Pat42 PubMed: Pronicka 2016 no family history F - Poland - - - - - ? mitochondrial disease criteria score 2 1 1 Johan den Dunnen
00291758 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 22 Mohammed Faruq
00291759 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 55 Mohammed Faruq
00291760 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00304585 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00374326 S-3908 PubMed: Ganapathy 2019 - - - India - - - - - ? Developmental delay and seizures 1 1 Johan den Dunnen
00374742 S-2346 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374743 S-5688 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374744 S-3669 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00419627 7014 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00455776 Pat16 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00455786 Pat26 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00455855 Pat95 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00457748 - - - M - - (not applicable) white - - - - ? HP:0000218, HP:0000219, HP:0000319, HP:0000343, HP:0000689, HP:0007655, HP:0011800, HP:0000368, HP:0000369, HP:0002650, HP:0002313, HP:0000750, HP:0010864, HP:0001250, HP:0012758, HP:0100716 1 1 Marketa Wayhelova
00457835 Pat1 PubMed: Rodriguez 2001 - - - France - 5.4y - - - ALXDRD see paper; ..., 5.4y-deceased; progressive megalencephaly, OFC SD+3; 4m-psychomotor degradation; recurrent seizures; MRI rostrocaudal gradient abnormal white matter signal; biopsy Rosenthal fibers; feeding difficulties; respiratory difficulties; neuropathology 1 1 Johan den Dunnen
00457836 Pat2 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - ALXDRD see paper; ..., OFC SD+1; 8m-delayed psychomotor development; MRI abnormalities suggestive of Alexander disease 1 1 Johan den Dunnen
00457837 Pat3 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - ALXDRD see paper; ..., OFC SD+1; 1d-delayed psychomotor development; 7y-psychomotor degradation; occasional seizures; MRI abnormalities suggestive of Alexander disease 1 1 Johan den Dunnen
00457838 Pat4 PubMed: Rodriguez 2001 - - - France - - - - - ALXDRD see paper; ..., OFC SD+1.5; 8m-delayed psychomotor development; occasional seizures; MRI abnormalities suggestive of Alexander disease 1 1 Johan den Dunnen
00457839 Pat5 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - ALXDRD see paper; ..., OFC SD+0.5; 6m-delayed psychomotor development; occasional seizures; MRI abnormalities suggestive of Alexander disease 1 1 Johan den Dunnen
00457840 Pat6 PubMed: Rodriguez 2001 - - - France - - - - - ALXDRD see paper; ..., OFC SD+1.5; 6m-delayed psychomotor development; 8y-psychomotor degradation; occasional seizures; MRI abnormalities suggestive of Alexander disease 1 1 Johan den Dunnen
00457841 Pat7 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - ALXDRD see paper; ..., progressive megalencephaly, OFC SD+3; 6m-delayed psychomotor development; recurrent seizures; MRI rostrocaudal gradient abnormal white matter signal 1 1 Johan den Dunnen
00457842 Pat8 PubMed: Rodriguez 2001 - - - France - - - - - ALXDRD see paper; ..., progressive megalencephaly, OFC SD+3; 1d-delayed psychomotor development; recurrent seizures; MRI rostrocaudal gradient abnormal white matter signal 1 1 Johan den Dunnen
00457843 Pat9 PubMed: Rodriguez 2001 … - - France - - - - - ALXDRD see paper; ..., OFC SD+1; 1m-delayed psychomotor development; MRI abnormalities suggestive of Alexander disease 1 1 Johan den Dunnen
00457844 Pat10 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - ALXDRD see paper; ..., progressive megalencephaly, OFC SD+3; 6m-delayed psychomotor development; occasional seizures; MRI rostrocaudal gradient abnormal white matter signal 1 1 Johan den Dunnen
00457845 Pat11 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - ALXDRD see paper; ..., OFC SD+3.5; 6m-delayed psychomotor development; MRI abnormalities suggestive of Alexander disease 1 1 Johan den Dunnen
00457846 Pat12 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - 4.5y - - - ALXDRD see paper; ..., 4.5y-deceased; OFC SD+1; 12m-delayed psychomotor development; 13m-psychomotor degradation; recurrent seizures; MRI abnormalities suggestive of Alexander disease; neuropathology 1 1 Johan den Dunnen
00457847 Pat13 PubMed: Rodriguez 2001 - - - France - - - - - ALXDRD see paper; ..., OFC SD+1.5; 18m-delayed psychomotor development; 6y-psychomotor degradation; occasional seizures; MRI abnormalities suggestive of Alexander disease 1 1 Johan den Dunnen
00457848 Pat14 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - 1.2y - - - ALXDRD see paper; ..., 1.2y-deceased; progressive megalencephaly, OFC SD+3; 3m-psychomotor degradation; occasional seizures; MRI rostrocaudal gradient abnormal white matter signal; Rosenthal fibers; feeding difficulties; respiratory difficulties; neuropathology 1 1 Johan den Dunnen
00457851 patient PubMed: Asahina 2006 - M - Japan - - - - - ALXDRD see paper; ..., 40w-birth, weight 2550g (−1.6SD), length 46cm (−2.0SD), OFC 31cm (−1.8SD); developmental milestones slightly delayed, 5m-head control, 12m-stand, 20m-walk, 24m-first speech; 5y-first seizure 1 1 Johan den Dunnen
00457852 Pat1 PubMed: Brenner 2001 - M - United States - 14y - - - ALXDRD see paper; ..., 14y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 2 1 Johan den Dunnen
00457853 Pat2 PubMed: Brenner 2001 - F - United States - 48y - - - ALXDRD see paper; ..., 48y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 3 1 Johan den Dunnen
00457854 Pat3 PubMed: Brenner 2001 2-generation family, 1 affected, unaffected non carrier parents M - United States - 6y - - - ALXDRD see paper; ..., 6y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 1 1 Johan den Dunnen
00457855 Pat4 PubMed: Brenner 2001 - F - United States - 11y - - - ALXDRD see paper; ..., 11y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 2 1 Johan den Dunnen
00457856 Pat5 PubMed: Brenner 2001 2-generation family, 1 affected, unaffected non carrier parents F - United States - 10y - - - ALXDRD see paper; ..., 10y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 2 1 Johan den Dunnen
00457857 Pat6 PubMed: Brenner 2001 2-generation family, 1 affected, unaffected non carrier parents F - United States - 4y - - - ALXDRD see paper; ..., 4y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 1 1 Johan den Dunnen
00457858 Pat7 PubMed: Brenner 2001 - F - United States - 11m - - - ALXDRD see paper; ..., 11m-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 2 1 Johan den Dunnen
00457859 Pat8 PubMed: Brenner 2001 2-generation family, 1 affected, unaffected non carrier parents M - United States - 6y - - - ALXDRD see paper; ..., 6y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 2 1 Johan den Dunnen
00457860 Pat9 PubMed: Brenner 2001 - M - United States - 7y - - - ALXDRD see paper; ..., 7y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 2 1 Johan den Dunnen
00457861 Pat10 PubMed: Brenner 2001 2-generation family, 1 affected, unaffected non carrier parents F - United States - 8y - - - ALXDRD see paper; ..., 8y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 2 1 Johan den Dunnen
00457862 Pat11 PubMed: Brenner 2001 - F - United States - 4m - - - ALXDRD see paper; ..., 4m-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation 1 1 Johan den Dunnen
00457863 Pat1 PubMed: Li 2005 - F - United States - - - - - ALXDRD no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from biopsy/autopsy; MRI brain atypical 1 1 Johan den Dunnen
00457864 Pat2 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457865 Pat3 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - ALXDRD no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; pathology from autopsy; MRI brain typical 1 1 Johan den Dunnen
00457866 Pat4 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - United States - 10y7m - - - ALXDRD 10y7m-deceased; no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical 1 1 Johan den Dunnen
00457867 Pat5 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - United States - 2y3m - - - ALXDRD 2y3m-deceased; macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; cognitive defect; pathology from autopsy; MRI brain typical 1 1 Johan den Dunnen
00457868 Pat6 PubMed: Li 2005 - M - United States - - - - - ALXDRD macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457869 Pat7 PubMed: Li 2005 - F - United States - 6y11m - - - ALXDRD 6y11m-deceased; macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; pathology from biopsy; 1 1 Johan den Dunnen
00457870 Pat8 PubMed: Li 2005 - F - United States - - - - - ALXDRD macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457871 Pat9 PubMed: Li 2005 - M - Netherlands - - - - - ALXDRD no macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical 2 1 Johan den Dunnen
00457872 Pat10 PubMed: Li 2005 - M - United States - 6y5m - - - ALXDRD 6y5m-deceased; macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457873 Pat11 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical 1 1 Johan den Dunnen
00457874 Pat12 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - United States - - - - - ALXDRD <11y6m-chronic bed-wetting; 11y6m-scoliosis; no macrocephaly; no seizures; spasticity; no bulbar/pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical 1 1 Johan den Dunnen
00457875 Pat13 PubMed: Li 2005 - F - United States - 33y - - - ALXDRD 33y-deceased; no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from autopsy; MRI brain atypical 1 1 Johan den Dunnen
00457876 Pat14 PubMed: Li 2005 2-generation family, affected twin pair, unaffected non carrier parents M - United States - 10y - - - ALXDRD 10y-deceased; no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; MRI brain atypical 1 2 Johan den Dunnen
00457877 Pat15 PubMed: Li 2005 twin M - United States - 8y - - - ALXDRD 8y-deceased; no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from biopsy; MRI brain atypical 1 1 Johan den Dunnen
00457878 Pat16 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457879 Pat17 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical 2 1 Johan den Dunnen
00457880 Pat18 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - Netherlands - - - - - ALXDRD macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; no ataxia; no cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457881 Pat19 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical 2 1 Johan den Dunnen
00457882 Pat20 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - 8y - - - ALXDRD 8y-deceased; no macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical 2 1 Johan den Dunnen
00457883 Pat21 PubMed: Li 2005 - M - United States - 2y5m - - - ALXDRD 2y5m-deceased; macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical 1 1 Johan den Dunnen
00457884 Pat22 PubMed: Li 2005 - F - Netherlands - - - - - ALXDRD no macrocephaly; no seizures; no spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; pathology from biopsy; MRI brain atypical 1 1 Johan den Dunnen
00457885 Pat23 PubMed: Li 2005 - M - United States - 11m15d - - - ALXDRD 11m15d-deceased; macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical 1 1 Johan den Dunnen
00457886 Pat24 PubMed: Li 2005 - F - United States - 11m15d - - - ALXDRD 11m15d-deceased; macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; pathology from autopsy; MRI brain typical 1 1 Johan den Dunnen
00457887 Pat25 PubMed: Li 2005 - M - United States - 5y3m - - - ALXDRD 5y3m-deceased; macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457888 Pat26 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457889 Pat27 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD no macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; MRI brain typical 1 1 Johan den Dunnen
00457890 Pat28 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; pathology from biopsy; MRI brain atypical 1 1 Johan den Dunnen
00457891 Pat29 PubMed: Li 2005 - F - Netherlands - - - - - ALXDRD no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical 2 1 Johan den Dunnen
00457892 Pat30 PubMed: Li 2005 - M - United States - - - - - ALXDRD no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical 1 1 Johan den Dunnen
00457893 Pat31 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD no macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical 2 1 Johan den Dunnen
00457894 Pat32 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - United States - 3m15d - - - ALXDRD 3m15d-deceased; no macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; pathology from autopsy; MRI brain typical 1 1 Johan den Dunnen
00457895 Pat33 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - United States - 38d - - - ALXDRD 38d-deceased; macrocephaly (75th percentile), rapidly expanding prior to death; seizures; no spasticity; no bulbar/pseudobulbar signs; pathology from autopsy; MRI brain typical 2 1 Johan den Dunnen
00457896 Pat34 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - United States - - - - - ALXDRD no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical 1 1 Johan den Dunnen
00457897 Pat35 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - 4m - - - ALXDRD 4m-deceased; macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; pathology from autopsy; 2 1 Johan den Dunnen
00457898 Pat36 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD no macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; cognitive defect; MRI brain typical 2 1 Johan den Dunnen
00457899 Pat37 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - United States - 6m - - - ALXDRD 6m-deceased; macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical 1 1 Johan den Dunnen
00457900 Pat38 PubMed: Li 2005 - M - United States - - - - - ALXDRD macrocephaly; bulbar and/or pseudobulbar signs; cognitive defect; pathology from biopsy; MRI brain typical 1 1 Johan den Dunnen
00457901 Pat39 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ALXDRD macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; no ataxia; MRI brain typical 1 1 Johan den Dunnen
00457902 Pat40 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - Netherlands - - - - - ALXDRD no macrocephaly; seizures; spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; MRI brain typical 2 1 Johan den Dunnen
00457903 Pat41 PubMed: Li 2005 - M - United States - - - - - ALXDRD no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from biopsy; MRI brain typical 1 1 Johan den Dunnen
00457904 Pat42 PubMed: Li 2005 - M - Netherlands - 8m - - - ALXDRD 8m-deceased; no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; MRI brain atypical 2 1 Johan den Dunnen
00457945 patient PubMed: Sawaishi 2002 2-generation family, 1 affected, unaffected non carrier parents M - Japan - - - - - ALXDRD see paper; ..., 13y-slowly progressive motor/mental deterioration, slurred nasal voice, elevation αB-crystallin/HSP27 in CSF, characteristic neuroimaging findings (frontal dominant leukodystrophy with cyst formation, prominent involvement arcuate fibers, diffuse symmetric lesions basal nuclei, subependymal stripes around ateral ventricle); 8y-generalized febrile convulsion with bilateral frontal spikes, school performance declined, motor function worsened; 21y-walk short distances independently, speak slowly in simple sentences, play video games 1 1 Johan den Dunnen
00457946 FamPat1 PubMed: Namekawa 2002 family, 2 affected brothers M - Japan - - - - - ? see paper; ..., 53y-deceased (aspiration pneumonia); 33y-after fall with head trauma, developed progressive right side–dominant tetraparesis with exaggerated tendon reflexes, Babinski signs, falling easily; 51y-transient loss consciousness caused by fall, became bedridden (exacerbated spastic tetraplegia); dysarthria, dysphagia, urinary retention 1 2 Johan den Dunnen
00457947 FamPat2 PubMed: Namekawa 2002 brother M - Japan - - - - - ? see paper; ..., 48y-progressive spastic gait, gradually could not raise left arm; mild spastic left hemiparesis, slightly hemispastic gait without sensory disturbance; tendon reflexes bilaterally exaggerated with Babinski signs; eye movements saccadic, lateral gaze nystagmoid jerk; no dysarthria, no dysphagia, no tongue atrophy, no fasciculation, no palatal myoclonus 1 1 Johan den Dunnen
00457948 patient PubMed: Bassuk 2003 - M - United States Philippines;Europe-W - - - - ALXDRD see paper; ..., 38d deceased (prolonged seizures, respiratory failure); 1d-poor feeding; 5d-emesis, poor feeding 1 1 Johan den Dunnen
00457949 patient PubMed: Stumpf 2003 4-generation family, 9 affected (4F, 5M) F;M - Canada - - - - - ALXDRD see paper; ..., bulbar signs, sleep disturbance (mainly sleep apnea), symptoms of dysautonomia, dysmorphism; MRI brain younger patients T2 signal abnormalities medulla (area of demyelination), older patients marked atrophy medulla, no signal abnormalities 1 1 Johan den Dunnen
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