Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia

2009 ◽  
Vol 24 (9) ◽  
pp. 1393-1395 ◽  
Author(s):  
Hiroyuki Kaneko ◽  
Masaki Hirose ◽  
Shinichi Katada ◽  
Toshiaki Takahashi ◽  
Satoshi Naruse ◽  
...  
Keyword(s):  
Alexander Disease ◽  
Adult Onset ◽  
Spastic Ataxia

scholarly journals A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle

2021 ◽  
pp. 355-360
Author(s):  
Tongjia Cai ◽  
Sisi Jing ◽  
Ying Li ◽  
Jianjun Wu
Keyword(s):  
White Matter ◽  
Contrast Enhancement ◽  
Medulla Oblongata ◽  
Lateral Ventricle ◽  
Brain Lesion ◽  
Alexander Disease ◽  
Adult Onset ◽  
White Matter Abnormality ◽  
Frontal White Matter ◽  
Upper Cervical

Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (<i>GFAP</i>). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contrast enhancement, atrophy and signal intensity changes of the medulla oblongata and upper cervical cord on MRI. Focal lesions are rarely seen in AOAD, which causes concern for primary malignancies. This study aimed to present the case of a 37-year-old male patient initially diagnosed with an astrocytoma in the lateral ventricle that was later identified as GFAP mutation-confirmed AOAD. <i>GFAP</i> sequencing revealed a heterogeneous missense mutation point c.236G&#x3e;A. Hence, AOAD should be considered in patients with tumor-like lesion brain lesion in association with atrophy of medulla oblongata and upper cervical spinal cord, and frontal white matter abnormality with contrast enhancement.

Adult onset Alexander disease presenting with progressive spastic paraplegia

2014 ◽  
Vol 20 (2) ◽  
pp. 241-242 ◽  
Author(s):  
José Luiz Pedroso ◽  
Salmo Raskin ◽  
Orlando Graziani Povoas Barsottini ◽  
Acary S.B. Oliveira
Keyword(s):  
Alexander Disease ◽  
Adult Onset ◽  
Spastic Paraplegia

Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour

2008 ◽  
Vol 15 (2) ◽  
pp. e16-e17 ◽  
Author(s):  
T. Hirayama ◽  
J. Fukae ◽  
K. Noda ◽  
K. Fujishima ◽  
T. Yamamoto ◽  
...  
Keyword(s):  
Alexander Disease ◽  
Adult Onset ◽  
Palatal Myoclonus ◽  
Intraventricular Tumour

scholarly journals Atypical MRI features in familial adult onset Alexander disease: case report

BMC Neurology ◽  
2016 ◽  
Vol 16 (1) ◽  
Author(s):  
Yonghong Liu ◽  
Heng Zhou ◽  
Huabing Wang ◽  
Xiaoqing Gong ◽  
Anna Zhou ◽  
...  
Keyword(s):  
Case Report ◽  
Alexander Disease ◽  
Adult Onset ◽  
Mri Features ◽  
Disease Case

scholarly journals Teaching Video NeuroImages: Palatal tremor in adult-onset Alexander disease

Neurology ◽  
2016 ◽  
Vol 86 (24) ◽  
pp. e252-e252 ◽  
Author(s):  
Jason R. Sebesto ◽  
Jay A. van Gerpen
Keyword(s):  
Alexander Disease ◽  
Adult Onset ◽  
Palatal Tremor ◽  
Teaching Video

A novel mutation in the GFAP gene in a familial adult onset Alexander disease

2007 ◽  
Vol 254 (9) ◽  
pp. 1278-1280 ◽  
Author(s):  
Andrea Salmaggi ◽  
Andrea Botturi ◽  
Elena Lamperti ◽  
Marina Grisoli ◽  
Rita Fischetto ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Alexander Disease ◽  
Adult Onset

scholarly journals Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

2013 ◽  
Vol 8 (1) ◽  
pp. 66 ◽  
Author(s):  
Laura Melchionda ◽  
Mingyan Fang ◽  
Hairong Wang ◽  
Valeria Fugnanesi ◽  
Michela Morbin ◽  
...  
Keyword(s):  
Alexander Disease ◽  
Adult Onset

scholarly journals Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

2016 ◽  
Vol 53 (2) ◽  
pp. 169-172 ◽  
Author(s):  
Ayse Deniz Elmali ◽  
Umran Cetincelik ◽  
Civan Islak ◽  
Nurten Uzun Adatepe ◽  
Feray Karaali Savrun ◽  
...  
Keyword(s):  
Alexander Disease ◽  
Adult Onset

scholarly journals Recessively‐Inherited Adult‐Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene

2020 ◽  
Vol 35 (9) ◽  
pp. 1662-1667
Author(s):  
Mu‐Hui Fu ◽  
Yung‐Yee Chang ◽  
Ni‐Hsuan Lin ◽  
Ai‐Wen Yang ◽  
Chiung‐Chih Chang ◽  
...  
Keyword(s):  
Alexander Disease ◽  
Homozygous Mutation ◽  
Adult Onset
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