Growth in ataxia telangiectasia

Natale, Valerie; Cole, Tim J.; Rothblum-Oviatt, Cynthia; Wright, Jonathan H.; Crawford, Thomas O.; Lefton‐Greif, Maureen A.; McGrath‐Morrow, Sharon A.; Schlechter, Haley; Lederman, Howard M.

doi:10.1186/s13023-021-01716-5

Cited by 12 publications

(12 citation statements)

References 36 publications

(51 reference statements)

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“…In a cohort of children and young adults with A-T only 9% of children with A-T met the definition of wasting at 2 years of age but by 21 years 55% met that definition. 7 Linear growth also usually falters in classic A-T. Approximately half of 2 year-olds with A-T were found to have heights at the 50th percentile; while adults with classic A-T had median heights at the 3rd percentile.…”

Section: Other Common Clinical Findings In Preschool Children With A-tmentioning

confidence: 99%

“…Children with classic A-T may be slightly smaller at birth than average but otherwise manifest no physical characteristics indicating the diagnosis. 7 In the absence of a family history the early appearance does not enable diagnosis until later emergence of characteristic clinical features.…”

Section: Clinical Characteristics Of Atmentioning

confidence: 99%

“…Although many children with classic A-T will have normal weight gain during the preschool years; most will start dropping growth percentiles by 5 years of age. 7 Worsening dysphagia from neurological progression can contribute to the risk of growth faltering and suboptimal weight gain during childhood. 14 Children often require longer mealtimes for several reasons, which can lead to less caloric intake.…”

Section: Other Common Clinical Findings In Preschool Children With A-tmentioning

confidence: 99%

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Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

McGrath‐Morrow¹,

Rothblum-Oviatt²,

Wright³

et al. 2021

JMDH

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Ataxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated ( ATM ) gene. In the absence of a family history, the diagnosis of A-T is usually not made until the child is older and symptomatic. Classic A-T is characterized by a constellation of clinical symptoms including progressive ataxia, oculocutaneous telangiectasias and sinopulmonary disease and is usually associated with absence of ATM protein. Other laboratory features associated with A-T include elevated serum levels of alpha-fetoprotein (AFP) and increased chromosomal breakage with in vitro exposure to ionizing radiation. Sinopulmonary symptoms can occur to varying degrees across the lifespan. Some children will also have hypogammaglobulinemia and impaired antibody responses requiring supplemental gamma globulin. People with hypomorphic ATM mutations are often considered to have mild A-T with onset of ataxia and neurological progression occurring later in life with less impairment of the immune system. The risk of malignancy, however, is significantly increased in people with either classic or mild A-T. While hematological malignancies are most common in the first two decades of life, solid organ malignancies become increasingly common during young adulthood. Deterioration of neurologic function with age is associated with dysphagia with aspiration, growth faltering, loss of ambulation and decline in pulmonary function, morbidities that contribute to shortened life expectancy and decreased quality of life. Premature death is often due to malignancies or chronic respiratory insufficiency. A-T is currently managed with supportive care and symptomatic treatment. Current clinical trials, however, represent progress and hope towards disease-modifying therapies for A-T.

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Section: Other Common Clinical Findings In Preschool Children With A-tmentioning

confidence: 99%

Section: Clinical Characteristics Of Atmentioning

confidence: 99%

Section: Other Common Clinical Findings In Preschool Children With A-tmentioning

confidence: 99%

See 1 more Smart Citation

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

McGrath‐Morrow¹,

Rothblum-Oviatt²,

Wright³

et al. 2021

JMDH

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“…Following the publication of the original article [ 1 ] the authors became aware of an error in Fig. 7 : The labels over the purple bars were unfortunately interchanged.…”

Section: Correction To: Orphanet J Rare Dis (2021) 16:123 101186/s13023-021-01716-5mentioning

confidence: 99%

Correction to: Growth in ataxia telangiectasia

Natale¹,

Cole

Rothblum-Oviatt

et al. 2021

Orphanet J Rare Dis

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“…Examples include stunted growth throughout childhood and adolescence periods (Natale et al, 2021); metabolic syndromes related to insulin resistance, diabetes, and liver dysfunction are commonly reported among older A-T patients (Nissenkorn et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Cross‐talk between DNA damage response and the central carbon metabolic network underlies selective vulnerability of Purkinje neurons in ataxia‐telangiectasia

Sun

Wong

Chow

2023

Journal of Neurochemistry

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Cerebellar ataxia is often the first and irreversible outcome in the disease of ataxia‐telangiectasia (A‐T), as a consequence of selective cerebellar Purkinje neuronal degeneration. A‐T is an autosomal recessive disorder resulting from the loss‐of‐function mutations of the ataxia‐telangiectasia–mutated ATM gene. Over years of research, it now becomes clear that functional ATM—a serine/threonine kinase protein product of the ATM gene—plays critical roles in regulating both cellular DNA damage response and central carbon metabolic network in multiple subcellular locations. The key question arises is how cerebellar Purkinje neurons become selectively vulnerable when all other cell types in the brain are suffering from the very same defects in ATM function. This review intended to comprehensively elaborate the unexpected linkages between these two seemingly independent cellular functions and the regulatory roles of ATM involved, their integrated impacts on both physical and functional properties, hence the introduction of selective vulnerability to Purkinje neurons in the disease will be addressed.image

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Growth in ataxia telangiectasia

Cited by 12 publications

References 36 publications

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

Correction to: Growth in ataxia telangiectasia

Cross‐talk between DNA damage response and the central carbon metabolic network underlies selective vulnerability of Purkinje neurons in ataxia‐telangiectasia

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