Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease

Garcia-Reitboeck, Pablo; MacKinnon, Andrew D.; McEntagart, Meriel; Lambert, Christian; Edwards, Matthew; Omer, Salah

doi:10.1016/j.jns.2015.07.038

Journal of the Neurological Sciences

2015

DOI: 10.1016/j.jns.2015.07.038

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Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease

Pablo Garcia-Reitboeck

Andrew D. MacKinnon

Meriel McEntagart

et al.

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Cited by 4 publications

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“…Palatal myoclonus can be symptomatic or essential, and the involvement of the vocal cords is more frequent in symptomatic cases . A previously reported case of Alexander disease with the same missense variant (p.Leu346Ser) in the GFAP gene presented with palatal myoclonus . Isolated myoclonus of the vocal folds is a rare occurrence and is reported to occur in patients with pontine infarcts or in essential cases .…”

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“…2 A previously reported case of Alexander disease with the same missense variant (p.Leu346Ser) in the GFAP gene presented with palatal myoclonus. 3 Isolated myoclonus of the vocal folds is a rare occurrence and is reported to occur in patients with pontine infarcts or in essential cases. 2,4 Lesions in the dentate nuclei and brainstem were identified in the present case, suggesting that the isolated myoclonus of the vocal cords observed may also be caused by lesions in the brainstem and/or cerebellum within the dentato-rubro-olivary pathways.…”

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Isolated Myoclonus of the Vocal Folds in Alexander Disease

2022

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A 45-year-old woman presented to our hospital with chronic progressive orthostatic intolerance and dysarthria. The patient had previously experienced recurrent orthostatic dizziness during the past 10 years and several episodes of orthostatic syncope in the past 4 years. Approximately 1 year ago, the patient developed dysarthria. These symptoms gradually worsened. The patient's family medical history indicated similar symptoms in a relative who died several years earlier. Furthermore, other relatives were diagnosed with dementia and orthostatic hypotension. On admission, physical examination revealed dramatic orthostatic hypotension and a wide-based gait, as well as a normal finger-tonose test and heel-to-shin test. Brain and cervical spine magnetic resonance imaging showed bilateral symmetric white matter hyperintensities and atrophy of the medulla oblongata and spinal cord. Therefore, hereditary leukoencephalopathy was suspected. Wholeexome sequencing was performed and a heterozygous missense variant c.1037T>C (p.Leu346Ser) in the GFAP gene was identified, which was confirmed by Sanger sequencing. The patient was diagnosed with Alexander disease type II. Because of long-term abnormal sensations in the throat, laryngoscopy was performed, which revealed bilateral myoclonus of the vocal folds without simultaneous movement of the soft palate (Video). The patient did not experience any

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Isolated Myoclonus of the Vocal Folds in Alexander Disease

2022

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Neuropsychological features of adult form of Alexander disease

Draghi

Salsano

Farina

et al. 2019

Journal of the Neurological Sciences

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Clinical Characteristics of Alexander Disease

Yoshida

2020

Neurodegener. Dis. Manag.

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Alexander disease (ALXDRD) is a primary astrocyte disease caused by GFAP gene mutation. The clinical features of ALXDRD vary from infantile-onset cerebral white matter involvement to adult-onset brainstem involvement. Several studies revealed that the level of GFAP overexpression is correlated with disease severity, and basic research on therapies to reduce abnormal GFAP accumulation has recently been published. Therefore, the accumulation of clinical data to advance understanding of the natural history is essential for clinical trials expected in the future. This review focuses on the clinical characteristics of ALXDRD including the clinical symptoms, imaging findings and genetics to provide diagnostic information useful in daily clinical practice.

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Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease

Cited by 4 publications

References 4 publications

Isolated Myoclonus of the Vocal Folds in Alexander Disease

Isolated Myoclonus of the Vocal Folds in Alexander Disease

Neuropsychological features of adult form of Alexander disease

Clinical Characteristics of Alexander Disease

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