Disease #01638 (ALXDRD (Alexander's disease), OMIM:203450)

Official abbreviation ALXDRD
Name Alexander's disease
OMIM ID 203450
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 75
Phenotype entries for this disease 75
Associated with 1 gene GFAP
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)


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75 entries on 1 page. Showing entries 1 - 75.
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00226256 - - - M - Germany - - - - - ALXDRD - GFAP GFAP 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 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 - GFAP 1 1 Johan den Dunnen
00457849 Pat15 PubMed: Rodriguez 2001 - - - France - 2.5y - - - ALXDRD see paper; ..., 2.5y-deceased; progressive megalencephaly, OFC SD+4; 4m-delayed psychomotor development; 8m-psychomotor degradation; severe seizures (refractory); MRI rostrocaudal gradient abnormal white matter signal; Rosenthal fibers; feeding difficulties; respiratory difficulties; hydrocephalus; neuropathology - - - 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 GFAP GFAP 1 1 Johan den Dunnen
00457852 Pat1 PubMed: Brenner 2001 - M - United States - 14y - - - ALXDRD see paper; ..., 14y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation GFAP GFAP 2 1 Johan den Dunnen
00457853 Pat2 PubMed: Brenner 2001 - F - United States - 48y - - - ALXDRD see paper; ..., 48y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation GFAP GFAP 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 GFAP GFAP 1 1 Johan den Dunnen
00457855 Pat4 PubMed: Brenner 2001 - F - United States - 11y - - - ALXDRD see paper; ..., 11y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 1 1 Johan den Dunnen
00457858 Pat7 PubMed: Brenner 2001 - F - United States - 11m - - - ALXDRD see paper; ..., 11m-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation GFAP GFAP 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 GFAP GFAP 2 1 Johan den Dunnen
00457860 Pat9 PubMed: Brenner 2001 - M - United States - 7y - - - ALXDRD see paper; ..., 7y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation GFAP GFAP 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 GFAP GFAP 2 1 Johan den Dunnen
00457862 Pat11 PubMed: Brenner 2001 - F - United States - 4m - - - ALXDRD see paper; ..., 4m-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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; GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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; GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 2 1 Johan den Dunnen
00457905 Pat43 PubMed: Li 2005 - M - United States - 59y - - - ALXDRD 59y-deceased; no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from autopsy; MRI brain atypical GFAP - - 1 Johan den Dunnen
00457906 Pat44 PubMed: Li 2005 - F - United States - - - - - ALXDRD no macrocephaly; no seizures; no spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; MRI brain typical with additional increased signal intensity bilaterally within cerebral peduncles, crossing fibers pons, dentate nuclei GFAP - - 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 GFAP GFAP 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 GFAP GFAP 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 GFAP GFAP 1 1 Johan den Dunnen
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