Alexander’s disease and the story of Louise

Wilson, Barbara A.; Vargha‐Khadem, Faraneh; Florschutz, Gerhard

doi:10.1080/09602011.2016.1222945

Cited by 3 publications

(3 citation statements)

References 13 publications

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“…6 There is a paucity of literature about cognitive functioning in children with Alexander disease. 9,10 Due to the variability in white matter changes, cognitive patterns have been relatively unpredictable in previously published case studies. 9 Furthermore, it is unclear what the typical cognitive profile and trajectory is for each of the two types of Alexander disease.…”

Section: Introductionmentioning

confidence: 99%

Neuropsychological Functioning in Alexander Disease: A Case Series

Kirsch

McCall

Lange

et al. 2021

Child Neurology Open

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Limited information is known about neuropsychological outcomes in Alexander disease, a rare leukodystrophy. Two pediatric cases are summarized. Case 1 (evaluations at 6, 7, 9, and 12 years of age) represents Type I Alexander disease with associated seizures. Case 2 (evaluations at 12, 13, and 16 years of age) represents Type II Alexander disease without additional complications. Case 1 experienced declines in intellectual functioning, visual motor skills, receptive vocabulary, verbal memory, and academic achievement. Case 2 experienced variable neurocognitive change and academic functioning, with average word reading and spelling. Verbal memory also remained intact. Taken together, individuals with Alexander disease may experience cognitive decline to variable degrees. Type I Alexander disease, associated with earlier onset and additional neurological complications, may presage greater cognitive decline than Type II. Due to variability in functioning over time, it is critical to follow individuals across development to make recommendations for educational and treatment planning.

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Section: Introductionmentioning

confidence: 99%

Neuropsychological Functioning in Alexander Disease: A Case Series

Kirsch

McCall

Lange

et al. 2021

Child Neurology Open

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“…Bulbar signs (62.0%), ataxia (58.0%) and spasticity (52.0%), were observed less often. Wilson et al [10] described the longest survivor with AxD, who was diagnosed with this disease at the age of 5 years and is still alive at the age of 38.…”

Section: Discussionmentioning

confidence: 99%

Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia

Paprocka

Rzepka-Migut²,

Rzepka³

et al. 2019

Balkan Journal of Medical Genetics

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Alexander disease (AxD) is a rare autosomal dominant leukodystrophy with three clinical subtypes: infantile, juvenile and adult. Forms differ by age of symptoms occurrence and the clinical presentation. Although recent data suggest considering only two subtypes: type I (infantile onset with lesions extending to the cerebral hemispheres); type II (adult onset with primary involvement of subtentorial structures). Dominant mutations in the glial fibrillary acidic protein (GFAP) gene in AxD cause dysfunction of astrocytes (a type III intermediate filament). The authors discuss the clinical picture of a boy with infantile form of AxD confirmed by the presence of de novo heterozygous mutation c.236G>A in the GFAP gene and without striking symptoms such as macrocephaly and with exceptional late-onset epileptic spasms with hypsarrhyth- mia on electroencephalogram (EEG).

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“…The term ‘childhood dementia’ has not been widely adopted despite being described in medical literature since the mid-20th century 68 and the term being increasingly associated with individual conditions, especially Batten disease, 69 Sanfilippo syndrome, 70 Lafora disease, 71 Hurler syndrome 72 and Alexander disease. 73 Patient organizations are adopting the term and individual families are using it to raise awareness and understanding of their child’s condition on social media and in the community. Dementia support organizations are beginning to recognize childhood dementia and include affected families in their service provision.…”

Section: Conclusion and Future Prospectsmentioning

confidence: 99%

The collective burden of childhood dementia: a scoping review

Elvidge,

Christodoulou,

Farrar

et al. 2023

Brain

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Childhood dementia is a devastating and under-recognised group of disorders with a high level of unmet need. Typically monogenic in origin, this collective of individual neurodegenerative conditions are defined by a progressive impairment of neurocognitive function, presenting in childhood and adolescence. This scoping review aims to clarify definitions and conceptual boundaries of childhood dementia and quantify the collective disease burden. A literature review identified conditions that met the case definition. An expert clinical working group reviewed and ratified inclusion. Epidemiological data were extracted from published literature and collective burden modelled. One hundred and seventy genetic childhood dementia disorders were identified. Of these, 25 were analysed separately as treatable conditions. Collectively, currently untreatable childhood dementia was estimated to have an incidence of 34.5 per 100,000 (1 in 2,900 births), median life expectancy of 9 years and prevalence of 5.3 per 100,000 persons. The estimated number of premature deaths per year is similar to childhood cancer (0-14 years) and approximately 70% of those deaths will be prior to adulthood. An additional 49.8 per 100,000 births are attributable to treatable conditions that would cause childhood dementia if not diagnosed early and stringently treated. A relational database of the childhood dementia disorders has been created and will be continually updated as new disorders are identified (https://knowledgebase.childhooddementia.org/). We present the first comprehensive overview of monogenic childhood dementia conditions and their collective epidemiology. Unifying these conditions, with consistent language and definitions, reinforces motivation to advance therapeutic development and health service supports for this significantly disadvantaged group of children and their families.

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Alexander’s disease and the story of Louise

Cited by 3 publications

References 13 publications

Neuropsychological Functioning in Alexander Disease: A Case Series

Neuropsychological Functioning in Alexander Disease: A Case Series

Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia

The collective burden of childhood dementia: a scoping review

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