Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia

Ying, K.L.; DeCoteau, William E.

doi:10.1016/0165-4608(81)90027-3

Cited by 47 publications

(26 citation statements)

References 11 publications

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“…Previously reported cases share one or more of the manifestations of NBS and/or AT but cannot be assigned to one of these syndromes because of the lack of data [Iskandar et al, 1980;Ying and Decoteau, 1981;Webster et al, 1982;Byrne et al, 1984;Fiorilli et al, 1985;Walters and Desposito, 1985;Curry et al, 1986;Maraschio et al, 1986;Say et al, 1986). In our opinion an extensive study on the X-ray hypersensitivity of cells (including complementation analysis) from these patients is needed for a better understanding of their disorder.…”

Section: Discussionmentioning

confidence: 84%

Further delineation of the Nijmegen breakage syndrome

Taalman¹,

Hustinx²,

Weemaes³

et al. 1989

Am. J. Med. Genet.

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We report on five independent families with a chromosome instability disorder that earlier had been called the Nijmegen breakage syndrome (NBS). These families, two from the Netherlands and three from Czechoslovakia, had a total of eight patients, five of whom are still alive. The main clinical manifestations were microcephaly, short stature, a "bird-like" face, immunological defects involving both the humoral and cellular system. In four of the five living patients it has been possible to study the chromosomes of cultured lymphocytes. The basic karyotype in these patients were normal, but in 17% to 35% of the metaphases rearrangements were found, preferentially involving chromosomes 7 and/or 14 at the sites 7p13, 7q34, and 14q11. The chromosomes of all five living patients were very sensitive to ionizing radiation. In addition, the DNA synthesis in their cultured lymphocytes and fibroblasts was more resistant to X-rays than in cells from controls. The NBS shares a number of important features with ataxia telangiectasia (AT). Both syndromes are characterized by the occurrence of typical rearrangements of chromosomes 7 and/or 14, cellular and chromosomal hypersensitivity to X-irradiation, radioresistance of DNA replication and immunodeficiency. However, there are also obvious differences: NBS patients have microcephaly but neither ataxia nor telangiectasia, and in contrast to the situation in AT the alpha-fetoprotein level in their serum is normal.

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Section: Discussionmentioning

confidence: 84%

Further delineation of the Nijmegen breakage syndrome

Taalman¹,

Hustinx²,

Weemaes³

et al. 1989

Am. J. Med. Genet.

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“…In such cases, the onset might be in late childhood or even in adolescence 11,[32][33][34], a peripheral neuropathy might be present, and the course could be prolonged and relatively benign. The patient reported by Terenty and colleagues 1331 had only popliteal, not conjunctival, telangiectasias at age 37 years, but he had a raised AFP level in serum as well as typical inversions and translocations involving chromosomes 7 and 14.…”

Section: Discussionmentioning

confidence: 99%

Ataxia—ocular motor aprilaxia: A syndrome mimicking ataxia‐telangiectasia

Aicardi

Barbosa

Andermann

et al. 1988

Annals of Neurology

128

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We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and none of the patients had evidence of multisystemic involvement. Specifically, there was no tendency to frequent infections, and immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal in all tested patients. The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia-telangiectasia an unlikely diagnosis. We suggest that these patients suffer from an unusual type of spinocerebellar degeneration. This syndrome has been observed in different populations from three continents, with a genetic pattern suggesting recessive autosomal inheritance.

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“…During the last decadle a few cases of possible AT variants without telangiectasia were reported [12][13][14]. Telangiectasia is not a feature in the syndrome mimicking AT described by Aicardie et al [15].…”

Section: Discussionmentioning

confidence: 99%

An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myclonia: a probable ataxia telangiectasia variant

Graaf

Jong

Kleijer

1995

Clinical Neurology and Neurosurgery

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We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset recessive cerebellar ataxia and progressive distal limb wasting. Ocular or other telangiectasias were absent. There were neither frequent infections nor immunodeficiencies. The two youngest patients exhibited an incapacitating myoclonus which abated markedly after 20 years. Late onset diabetes was demonstrated in 3 patients. Hypogonadism was not a feature and there was a prolonged survival in the 4 patients. The oldest sibling died of a pancreatic adenocarcinoma, c~-Fetoprotein was elevated with normal carcinoembryonic antigen values in three patients. Cytogenetic analysis and radioresistant DNA synthesis was compatible with the diagnosis of ataxia-telangiectasia. This family probably represents a rare variant of ataxia-telangiectasia.

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Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia

Cited by 47 publications

References 11 publications

Further delineation of the Nijmegen breakage syndrome

Further delineation of the Nijmegen breakage syndrome

Ataxia—ocular motor aprilaxia: A syndrome mimicking ataxia‐telangiectasia

An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myclonia: a probable ataxia telangiectasia variant

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