scholarly journals GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.

2022 ◽  
Vol 17 (3) ◽  
pp. 771-774
Author(s):  
Hirokazu Takeuchi ◽  
Norimichi Higurashi ◽  
Hiroshi Kawame ◽  
Tadashi Kaname ◽  
Kumiko Yanagi ◽  
...  
Keyword(s):  
Alexander Disease

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

Ketogenic Diet Therapy for Intractable Epilepsy in Infantile Alexander Disease: A Small Case Series and Analyses of Astroglial Chemokines and Proinflammatory Cytokines

2021 ◽  
Vol 170 ◽  
pp. 106519
Author(s):  
Shu Hamada ◽  
Takeo Kato ◽  
Kengo Kora ◽  
Tatsuya Kawaguchi ◽  
Tenshin Okubo ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Proinflammatory Cytokines ◽  
Case Series ◽  
Intractable Epilepsy ◽  
Diet Therapy ◽  
Alexander Disease ◽  
Small Case Series

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.

A rare cause of neuromuscular scoliosis: Alexander disease

2009 ◽  
Vol 76 (2) ◽  
pp. 195-197 ◽  
Author(s):  
Cagatay Ozturk ◽  
Mehmet Tezer ◽  
Omer Karatoprak ◽  
Azmi Hamzaoglu
Keyword(s):  
Alexander Disease ◽  
Neuromuscular Scoliosis

MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease

2002 ◽  
Vol 24 (7) ◽  
pp. 723-726 ◽  
Author(s):  
Atsushi Imamura ◽  
Kenji E. Orii ◽  
Shinji Mizuno ◽  
Hiroaki Hoshi ◽  
Tomio Kondo
Keyword(s):  
Mr Imaging ◽  
Mr Spectroscopy ◽  
Alexander Disease ◽  
1H Mr Spectroscopy

Periventricular calcification added to the phenotypic repertoire of Alexander disease

2010 ◽  
Vol 52 (12) ◽  
pp. 1081-1082 ◽  
Author(s):  
YUKIO SAWAISHI
Keyword(s):  
Alexander Disease

scholarly journals A new mutation in GFAP widens the spectrum of Alexander disease

2014 ◽  
Vol 23 (1) ◽  
pp. 1-2 ◽  
Author(s):  
Michael Brenner ◽  
Albee Messing
Keyword(s):  
Alexander Disease ◽  
New Mutation

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

scholarly journals An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

2009 ◽  
Vol 256 (4) ◽  
pp. 679-682 ◽  
Author(s):  
Maria Teresa Dotti ◽  
Rosaria Buccoliero ◽  
Andrew Lee ◽  
J. Raphael Gorospe ◽  
Daniel Flint ◽  
...  
Keyword(s):  
Alexander Disease ◽  
Mri Features

scholarly journals Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report

2013 ◽  
Vol 7 (1) ◽  
Author(s):  
Fumiko Nishibayashi ◽  
Miho Kawashima ◽  
Yoshiaki Katada ◽  
Nobuyuki Murakami ◽  
Miwako Nozaki
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Magnetic Resonance ◽  
Alexander Disease ◽  
Resonance Imaging ◽  
Serial Magnetic Resonance Imaging ◽  
Long Term Follow Up
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