Ataxia telangiectasia

Utian, H. L.; Plit, M.

doi:10.1136/jnnp.27.1.38

Cited by 10 publications

(7 citation statements)

References 4 publications

(1 reference statement)

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“…Of the 18246 cases, family history of A-T was reported in 1274 cases ( Table 2 ) and 142 cases (53 studies) had 199 illnesses or symptoms other than A-T in a relative ( Fig 3A ). 1279 cases (109 studies [ 15 , 53 , 65 , 71 , 72 , 78 , 87 , 88 , 95 , 99 – 101 , 109 , 110 , 115 , 118 – 221 ]) were the children of consanguineous relationships, and 186 cases (86 studies [ 23 , 33 , 41 , 50 , 54 , 62 , 63 , 65 , 71 , 74 , 84 , 88 , 95 , 111 , 116 , 142 , 146 , 151 – 153 , 188 , 208 – 210 , 212 , 214 , 216 , 218 , 219 , 221 – 277 ]) were reported as being born of non-consanguineous relationships.…”

Section: Resultsmentioning

confidence: 99%

“… Absence of family history of A-T was documented in at least 60 cases (54 studies [ 21 , 50 , 65 , 80 , 86 , 95 , 98 , 111 , 122 , 134 , 135 , 150 , 155 , 181 , 188 , 190 , 197 , 202 , 203 , 222 , 224 , 236 , 238 , 239 , 242 , 252 , 254 , 255 , 267 , 272 – 274 , 276 , 366 , 379 – 398 ]). …”

Section: Resultsmentioning

confidence: 99%

“…The lowest gestation was reported as “< 30 weeks”. Birth weight was reported in 41 cases (34 studies [ 43 , 59 , 63 , 84 , 108 , 110 , 111 , 139 , 178 , 206 , 212 , 231 , 242 , 252 , 254 , 263 , 268 , 272 , 276 , 298 , 305 , 325 , 372 , 380 , 384 , 391 , 399 – 406 ]) with median (range) of 2.9.5 (1.32 to 4.08) kg.…”

Section: Resultsmentioning

confidence: 99%

“…1219 cases (177 studies [ 18 , 28 , 31 , 33 , 36 , 38 , 41 , 42 , 47 – 49 , 52 , 57 , 59 , 62 , 63 , 65 , 66 , 72 , 73 , 75 , 76 , 80 , 84 , 87 , 95 , 99 , 100 , 103 , 106 , 108 , 109 , 111 , 116 , 118 – 120 , 122 , 123 , 126 , 129 , 131 , 138 – 141 , 143 , 147 , 159 , 165 , 166 , 174 – 176 , 179 , 181 , 190 , 191 , 202 , 206 ,…”

Section: Resultsunclassified

“…amenorrhoea. 2 studies [111,287] reported 7 cases of delayed menarche. 1 study [52] reported delayed sexual characteristics in 4 of 14 cases.…”

Section: Other Medical Problemsmentioning

confidence: 99%

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The natural history of ataxia-telangiectasia (A-T): A systematic review

et al. 2022

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Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition. Objectives Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature. Search methods 107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 –present, Web of Science core collection, Elsevier Scopus, and Cochrane Library. Selection criteria All human studies that report any aspect of A-T. Data collection and analysis Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest. Main results 1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months). Conclusions This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.

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