Ataxia telangiectasia in a brother and sister at older age

Jonge, J. De; Tijssen, Cornelis C.

doi:10.1016/0303-8467(88)90038-8

Cited by 9 publications

(11 citation statements)

References 6 publications

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“…Prolonged survival in AT patients has been reported [5,17,19,28,29]. This is also a conspicuous feature in our patients.…”

Section: Discussionsupporting

confidence: 80%

“…The excellent nursing care provided by their mother must also be taken into account in this respect. It is noteworthy that distal amyotrophy was not a feature in the patients of de Jonge and Tijssen [29], but was prominent in those of Goodman et al [17]. This may illustrate the variable time of onset and rate of progression of this clinical sign.…”

Section: Discussionmentioning

confidence: 85%

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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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“…Prolonged survival in AT patients has been reported [5,17,19,28,29]. This is also a conspicuous feature in our patients.…”

Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 85%

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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“…Very few patients with A‐T have been described with late onset disease and/or survival into the 4th decade [Amromin et al, 1979; Toledano and Lange, 1980; Ying and Decoteau, 1981; Taylor et al, 1987; Jonge and Tijssen, 1988; Opeskin et al, 1998; Stankovic et al, 1998; Saviozzi et al, 2002]. We are aware of only two previous reports in the literature on A‐T patients who have surpassed an age of 50 years (Table II).…”

Section: Discussionmentioning

confidence: 99%

Slow progression of ataxia‐telangiectasia with double missense and in frame splice mutations

Dörk

Bendix-Waltes

Wegner

et al. 2003

American J of Med Genetics Pt A

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Ataxia-telangiectasia (A-T) is caused by mutations of the ATM gene, the product of which is involved in the regulation of cellular responses to radiation damage. Ataxia usually starts in early childhood but a delayed age at onset and slower rate of neurological deterioration has been found for some patients with variant A-T. Only few patients have been documented to survive into the 4th decade. We report on a patient with an attenuated form of A-T who was diagnosed as having A-T by the age of 52 years and died by the age of 60 years. He was found to be a compound heterozygote for a double missense mutation (D2625E and A2626P) and a novel splicing mutation (496 + 5G --> A) of the ATM gene. Cytogenetic studies of the patient's lymphoblastoid cells revealed modest levels of bleomycin-induced chromosomal instability. Residual ATM protein was found at a level of 10-20% of wildtype. Low residual ATM kinase activity could be demonstrated towards p53, whereas it was poorly detectable towards nibrin. Our results corroborate the view that the clinical variability of A-T is partly determined by the mutation type and indicate that A-T can extend to late adulthood disease.

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“…The clinical syndrome of resting tremor without definite ataxia and only minor disturbances of immunological tests and radiosensitivity are unusual in AT. Until now, many variants of AT have been described, but to our knowledge ataxia has been a constant finding in all cases (10)(11)(12)(13)(14).…”

Section: J a P Hiel Et Almentioning

confidence: 97%

Late‐onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor

Hiel

Weemaes

Smeets³

et al. 1994

Movement Disorders

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Two young adult brothers presented with a 5- to 6-Hz resting tremor of the upper limbs. Although ataxia was not unequivocally present and ocular telangiectasia was minimal, typical rearrangements of chromosomes 7 and 14, and increased alpha-feto-protein levels indicated the presence of ataxia telangiectasia (AT). Resting tremor as a predominating symptom in AT is uncommon and to our knowledge has not been described previously.

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Ataxia telangiectasia in a brother and sister at older age

Cited by 9 publications

References 6 publications

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

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

Slow progression of ataxia‐telangiectasia with double missense and in frame splice mutations

Late‐onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor

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