All individuals with variants in gene GFAP

143 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
Reference     
Ethnic origin     
Remarks     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000001 Murakami N1, Tsuchiya T, Kanazawa N, Tsujino S, Nagai T.(2008) - - ALXDRD - 1 1 Y Yang
00000003 Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008) - - ALXDRD - 1 1 Y Yang
00000004 Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A.(2007) - - ALXDRD - 1 1 Y Yang
00000005 Cáceres-Marzal C1, Vaquerizo J, Galán E, Fernández S.(206) - - ALXDRD presented at the age of 5 months with refractory epilepsy and hypotonia 1 1 Y Yang
00000006 Hirayama T, Fukae J, Noda K, Fujishima K, Yamamoto T, Mori K, Maeda M, Hattori N, Shiroma N, Tsurui S, Okuma Y.(2008) - - ALXDRD Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour 1 1 Y Yang
00000007 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000008 Matej R1, Dvoráková L, Mrázová L, Houst'ková H, Elleder M.(2008) - - ALXDRD The case was characterized by early (late infantile) onset, the absence of megacephaly but with extensive internal hydrocephaly, despite a patent aqueduct. 1 1 Y Yang
00000009 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000010 Kawai M1, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.(2006) - - ALXDRD - 1 1 Y Yang
00000011 Hartmann H1, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.(2007) - - ALXDRD - 1 1 Y Yang
00000012 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000013 Hartmann H1, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.(2007) - - ALXDRD - 1 1 Y Yang
00000014 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000015 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000016 Ishigaki K1, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M.(2006) - - ALXDRD - 1 1 Y Yang
00000017 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000018 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000019 Dinopoulos A1, Gorospe JR, Egelhoff JC, Cecil KM, Nicolaidou P, Morehart P, DeGrauw T.(2006) - - ALXDRD - 1 1 Y Yang
00000020 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000021 Bachetti T1, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I.(2008) - - ALXDRD - 1 1 Y Yang
00000022 Shiihara T1, Kato M, Honma T, Ohtaki S, Sawaishi Y, Hayasaka K.(2002) - - ALXDRD - 1 1 Y Yang
00000023 Bachetti T1, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I.(2008) - - ALXDRD - 1 1 Y Yang
00000024 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000025 Namekawa M1, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I.(2010) - - ALXDRD Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement 1 1 Y Yang
00000026 Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM.(2007) - - ALXDRD Alexander disease with occipital predominance 1 1 Y Yang
00000027 Brenner M1, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A.(2001) - - ALXDRD - 1 1 Y Yang
00000028 Van Poppel K1, Broniscer A, Patay Z, Morris EB.(2009) - - ALXDRD We report the case of a 6-year-old male who was referred to a tertiary oncology center with a focal brainstem lesion which was presumed to be neoplastic. Due to the symmetric nature of the lesion on magnetic resonance imaging, the evaluation was expanded to investigate other possible causes and eventual diagnosis of Alexander's disease (AD) was made. 1 1 Y Yang
00000029 Howard KL1, Hall DA, Moon M, Agarwal P, Newman E, Brenner M.(2008) - - ALXDRD Adult-onset Alexander disease with progressive ataxia and palatal tremor 1 1 Y Yang
00000030 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000031 Aoki Y1, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y.(2001) - - ALXDRD - 1 1 Y Yang
00000032 Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) - - ALXDRD - 1 1 Y Yang
00000033 Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) - - ALXDRD - 1 1 Y Yang
00000034 Tanaka K1, Lee HU, Ikenaka K.(2007) - - ALXDRD - 1 1 Y Yang
00000035 Shiihara T1, Yoneda T, Mizuta I, Yoshida T, Nakagawa M, Shimizu N.(2011) - - ALXDRD - 1 1 Y Yang
00000037 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000038 Delnooz CC, Schelhaas JH, van de Warrenburg BP, de Graaf RJ, Salomons GS.(2008) - - ALXDRD Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes 1 1 Y Yang
00000039 Brockmann K1, Meins M, Taubert A, Trappe R, Grond M, Hanefeld F.(2003) - - ALXDRD - 1 1 Y Yang
00000040 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000041 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000042 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000043 Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008) - - ALXDRD - 1 1 Y Yang
00000044 Pareyson D1, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M.(2008) - - ALXDRD - 1 1 Y Yang
00000045 Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008) - - ALXDRD - 1 1 Y Yang
00000046 Kaneko H, Hirose M, Katada S, Takahashi T, Naruse S, Tsuchiya M, Yoshida T, Nakagawa M, Onodera O, Nishizawa M, Ikeuchi T.(2009) - - ALXDRD adult-onset Alexander disease presenting with spastic ataxia 1 1 Y Yang
00000047 Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) - - ALXDRD - 1 1 Y Yang
00000048 Kyllerman M1, Rosengren L, Wiklund LM, Holmberg E.(2005) - - ALXDRD - 1 1 Y Yang
00000049 Suzuki Y1, Kanazawa N, Takenaka J, Okumura A, Negoro T, Tsujino S.(2004) - - ALXDRD The neurological deterioration was mild and appeared relatively late for infantile onset. 1 1 Y Yang
00000050 "Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G(2001) - - ALXDRD - 1 1 Y Yang
00000053 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000054 Ye Wu1, Qiang Gu, Jingmin Wang, Yanling Yang, Xiru Wu, Yuwu Jiang.(2008) - - ALXDRD - 1 1 Y Yang
00000055 Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) - - ALXDRD - 1 1 Y Yang
00000057 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000058 Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) - - ALXDRD - 1 1 Y Yang
00000059 Ma HW1, Lu JF, Jiang J, Chen LY, Niu GH, Wu BM, Kanazawa N, Tsujino S.(2005) - - ALXDRD - 1 1 Y Yang
00000060 Stumpf E1, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P.(2003) - - ALXDRD - 1 1 Y Yang
00000061 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000062 "Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G(2001) - - ALXDRD - 1 1 Y Yang
00000063 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000064 "Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G(2001) - - ALXDRD - 1 1 Y Yang
00000065 Ohnari K1, Yamano M, Uozumi T, Hashimoto T, Tsuji S, Nakagawa M.(2007) - - ALXDRD This case presented with progressive dysarthria, dysphagia and spastic gait on the right side. Brain and spinal cord MRI showed marked atrophy of the medulla oblongata and spinal cord. Abnormal high signal intensities in the ventral medulla oblongata were detected bilaterally. 1 1 Y Yang
00000066 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000067 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000068 Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) - - ALXDRD - 1 1 Y Yang
00000069 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000070 Salvi F, Aoki Y, Della Nave R, Vella A, Pastorelli F, Scaglione C, Matsubara Y, Mascalchi M.(2005) - - ALXDRD Adult Alexander's disease without leukoencephalopathy 1 1 Y Yang
00000071 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - 1 1 Y Yang
00000072 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000073 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000074 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000075 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000076 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000077 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000078 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - 1 1 Y Yang
00000079 Shiihara T1, Yoneda T, Mizuta I, Yoshida T, Nakagawa M, Shimizu N.(2011) - - ALXDRD extreme white matter loss of cerebrum through cerebellum, severe atrophy of basal ganglia, cerebellum, brain stem, and cervical spinal cord 1 1 Y Yang
00000080 Suzuki H1, Yoshida T, Kitada M, Ichihashi J, Sasayama H, Nishikawa Y, Mistui Y, Nakagawa M, Kusunoki S.(2012) - - ALXDRD She showed psychomotor regression and a history of seizures, in addition to pendular nystagmus, dysarthria, spastic gait, and bladder dysfunction. Brain magnetic resonance imaging (MRI) showed atrophy of the medulla oblongata and mild cervical cord atrophy, deep white matter abnormalities, periventricular rim, and signal changes of the medulla oblongata and dentate hilum. 1 1 Y Yang
00000081 Namekawa M1, Takiyama Y, Honda J, Sakoe K, Naoi T, Shimazaki H, Yamagata T, Momoi MY, Nakano I.(2012) - - ALXDRD Episodic vomiting appeared at age nine, causing anorexia and insufficient growth. Brain MRI at age 11 showed a small nodular lesion with contrast enhancement in the left dorsal portion of the cervicomedullary junction. Her episodic vomiting improved spontaneously at age 13, and she became neurologically asymptomatic. The enhancement of the lesion disappeared simultaneously, although the plaque remained. Longitudinal MRI observations, however, revealed insidiously progressive cervicomedullary atrophy without a signal change. 1 1 Y Yang
00000082 Hida A, Ishiura H, Arai N, Fukuoka H, Hasuo K, Goto J, Uesaka Y, Tsuji S, Takeuchi S.(2012) - - ALXDRD presented with severe vocal cord paralysis during sleep 1 1 Y Yang
00000084 Torisu H1, Yoshikawa Y, Yamaguchi-Takada Y, Yano T, Sanefuji M, Ishizaki Y, Sawaishi Y, Hara T.(2013) - - ALXDRD Alexander disease with mild dorsal brainstem atrophy and infantile spasms 1 1 Y Yang
00000085 Wada Y1, Yanagihara C, Nishimura Y, Namekawa M.(2013) Japanese - ALXDRD unusual bilateral basal ganglia involvement 1 1 Y Yang
00000086 Ashrafi MR1, Tavasoli A2, Aryani O3, Alizadeh H4, Houshmand M5.(2013) Iran - ALXDRD - 1 1 Y Yang
00000087 Ashrafi MR1, Tavasoli A2, Aryani O3, Alizadeh H4, Houshmand M5.(2013) Iran - ALXDRD - 1 1 Y Yang
00000088 Brenner M, Messing A.(2014) - - ALXDRD - 1 1 Y Yang
00000089 Ramesh K1, Sharma S, Kumar A, Salomons GS, van der Knaap MS, Gulati S.(2013) Indian - ALXDRD - 1 1 Y Yang
00000090 Nishri D1, Edvardson S2, Lev D3, Leshinsky-Silver E4, Ben-Sira L5, Henneke M6, Lerman-Sagie T7, Blumkin L(2014) - - ALXDRD a combination of neurological symptoms and signs (developmental regression, failure to thrive, episodic deterioration, abnormal eye movements, pyramidal and cerebellar signs), urinary excretion of 3-methyl-glutaconic acid and imaging findings (extensive white matter changes and cerebellar atrophy) with a normal head circumference 1 1 Y Yang
00000091 Nam TS1, Kim JH2, Chang CH3, Yoon W4, Jung YS5, Kang SY6, Shin BA7, Perng MD3, Choi SY8, Kim MK1.(2015) - - ALXDRD - 1 1 Y Yang
00001435 Isaacs A1, Baker M, Wavrant-De Vrièze F, Hutton M.(1998) - - FTLD - 1 1 Y Yang
00004758 Brenner M et al.(2015) - - ALXDRD - 1 1 XY Liu
00004759 Iwasaki Y et al.(2015) - - ALXDRD - 1 1 XY Liu
00004760 Chang KE et al. (2015) - - ALXDRD Type II (adult onset) Alexander disease 1 1 XY Liu
00004761 Bonthius DJ et al. (2016) - - ALXDRD At the age of 4 years, the child developed epilepsia partialis continua, consisting of unabating motor seizures involving the unilateral perioral muscles. 1 1 XY Liu
00004762 Tonduti D et al. (2016) - - ALXDRD - 1 1 XY Liu
00004763 Tonduti D et al. (2016) - - ALXDRD - 1 1 XY Liu
00004764 Tonduti D et al. (2016) - - ALXDRD - 1 1 XY Liu
00004765 Tonduti D et al. (2016) - - ALXDRD - 1 1 XY Liu
00004766 de Paiva AR et al. (2016) - - ALXDRD type II (late-onset) Alexander disease 1 1 XY Liu
00004767 Liu Y et al. (2016) - - ALXDRD presenting with paroxysmal numbness of the limbs at the onset age of 28-year-old, progressing gradually to spastic paraparesis at age 30. One year later, she had ataxia, bulbar paralysis, bowel and bladder urgency. Her mother had a similar neurological symptoms and died within 2 years after onset (at the age of 47), and her maternal aunt also had similar but mild symptoms at the onset age of 54-year-old. Her brain magnetic resonance imaging (MRI) showed abnormal signals in periventricular white matter with severe atrophy in the medulla oblongata and thoracic spinal cord, and mild atrophy in cervical spinal cord, which is unusual in the adult form of AxD. 1 1 XY Liu
00006127 M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing - - ALXDRD - 1 1 XY Liu
00006128 M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing - - ALXDRD - 1 1 XY Liu
00006129 M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing - - ALXDRD - 1 1 XY Liu
00006130 M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing - - ALXDRD - 1 1 XY Liu
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