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Biomedical subjects

L N Went

Publications and source records attributed to L N Went.

At least 37 records · Page 2Linked to original sources
PubMed1986

Clinical and genetic studies in six Dutch kindreds with the dysplastic naevus syndrome.

In an ancient fishing village in the neighbourhood of Leiden a cluster of melanoma-prone families was detected. In these families atypical precursor naevi were recognizable in many melanoma patients and in their relatives. This combination of symptoms is called the Dysplastic Naevus Syndrome (DNS). The spectrum of clinical signs characterizing the phenotype of the DNS ranged from apparent lack of gene-expression through minimal to obvious manifestations. Genetic analysis of six pedigrees revealed an autosomal dominant mode of inheritance, with a very variable expressivity of the gene, which is also rather frequently non-penetrant. The total number of family members (affected or at risk) was 314, 243 of which were alive and were personally examined by us. In the six pedigrees a total of 33 patients with melanoma occurred. In thirty patients with multiple atypical naevi, the clinical diagnosis of DNS was histologically verified. A further thirty-six patients with several atypical naevi were also regarded as gene carriers. Fifteen 'normal' individuals had to be gene-carriers on the basis of their position in the pedigree.

Adolescent↗
PubMed1985

Familial hypokalemic periodic paralysis. 50-year follow-up of a large family.

A large family with hypokalemic periodic paralysis was reexamined after 50 years. Two new cases were found in the third generation and 12 in the fourth generation. This family now includes 28 affected patients in four generations. The reexamination ascertained the presence of permanent muscle weakness (PMW) in all investigated affected sibs. This fact, and the fact that indications of the presence of PMW without paralytic attacks were found in only one subject, is strong evidence that both are manifestations of the same more or less fully penetrant dominant gene. A linkage study in this family could not localize the gene on the human genome, but close linkage with 25 genetic marker systems could be excluded.

Adolescent↗
PubMed1985

The genetics of tritan disturbances.

Tritan (blue-green) colour vision disturbances have been found in 79 individuals in six families, revealing an autosomal dominant mode of inheritance with a wide variability of test results within families. Evidence is presented that it is--in contradistinction to the X-chromosomally inherited red-green defects--incorrect to make a subdivision between dichromasia (tritanopia) and anomalous trichromasia (tritanomaly). On the basis of three small screening series, totalling 1900 individuals, the frequency of tritan disturbances is estimated to be around 2 per 1000. Seven males have been observed carrying both inherited tritan and red-green defects.

Adolescent↗
PubMed1985

Studies in dominant optic atrophy.

The study of six families with dominant optic atrophy (DOA) originating from the neighbourhood of Leiden revealed that four could be connected through a common ancestor. A detailed analysis of 89 patients permitted a subdivision of the three remaining families into two groups: one with on the average a low visual acuity (less than 0.1) and the other with a moderately reduced visual acuity (+/- 0.35). Furthermore, differences in colour vision were observed. Genetic heterogeneity is thought to be at the root of these differences.

Adolescent↗
PubMed1984

Parental transmission in Huntington's disease.

There have been reports that juvenile onset Huntington's chorea is almost always inherited from the father, and that late-onset Huntington's chorea is inherited more often from the mother than from the father. In this larger survey of the parental transmission of disease in Huntington chorea 12 of 13 patients whose symptoms began before the age of 10 years had inherited the disease from the father. However, the 205 patients with late-onset disease (those who had lived up to at least the age of 65) were as likely to have inherited their disease from their father as from their mother.

Adolescent↗
PubMed1984

Genetic linkage between erythrokeratodermia variabilis and Rh locus.

A genetic linkage study was performed in a large Dutch kindred with erythrokeratodermia variabilis (EKV, McKusick no. 13320). The autosomal-dominant trait appeared to segregate rather consistently with the cde (r) gene complex of the Rh system. Only one recombinant was found amongst 27 informative individuals. Lod score calculations gave strong evidence for close linkage between the loci for EKV and Rh (with a maximum lod score of 5.55 at a recombination fraction of 0.044).

Chromosomes, Human, 1-3↗
PubMed1984

Familial benign hypercalcaemia (FBH; McK. No. 14598, 1983): linkage studies in a large Dutch family.

By screening 27 hypercalcaemic and 21 normocalcaemic subjects in a large Dutch pedigree with familial benign hypercalcaemia (FBH; McK. No. 14598) (McKusick 1983) for more than 35 genetic markers, it was found that linkage of FBH can be excluded at about 25 centimorgans (cM) from GM, 20 cM from ABO, 15 cM from MNS and HLA, 10 cM from JK and PI, and 5 cM each from ACP1, AK1, ADA, GPT1, and PGP.

Female↗
PubMed1984

Genetic aspects of erythropoietic protoporphyria.

An exhaustive study of erythropoietic protoporphyria in the Netherlands led to the discovery of 200 patients with this disorder in 91 families. In 46 of these families a single patient occurred. A study of parents, sibs and children led to the conclusion that the disease of erythropoietic protoporphyria is inherited as an autosomal recessive disorder. The presence of an occasional fluorescent red blood cell combined with normal protoporphyrin levels was observed in half of the children and sibs of patients and one of their parents; this phenomenon is therefore inherited as an autosomal dominant character. From an analysis of the findings in the 91 families we put forward the hypothesis of a 3-allele system.

Adolescent↗
PubMed1983

Huntington's Chorea in the Netherlands. The problem of genetic heterogeneity.

For 1100 patients with Huntington's Chorea in 102 families from The Netherlands the average age at death per family is presented. This average ranges from 72 to 38 years. An analysis of variance of the data is strongly indicative of genetic heterogeneity. For the patients with the relatively high age at death little or no difference is observed from the age at death of their non-affected parents and non-affected sibs. Eleven children who presented with the juvenile form of the disease had all inherited the abnormal gene from their father. These 11 children were found only in families with an average age at death below 57 years. Other factors that might possibly influence the variation of average age at death between families are discussed, but cannot explain the observed differences.

Adult↗
PubMed1983

X-linked incomplete achromatopsia with more than one class of functional cones.

Five affected males in the fifth generation of a large pedigree of X-chromosomal incomplete achromatopsia were tested. All had SWS cone function. A 19-year-old affected man was a classical blue cone monochromat on color matching and spectral sensitivity. A 16-year-old boy showed evidence of a long wavelength sensitive cone active in 8 degrees color matches. With a blue-green background, his cone spectral sensitivity function peaked near 550-560 nm. Three younger boys, aged 7-10 yrs were evaluated only with color matching. All showed evidence of long wavelength cone function with an 8 degree field and one showed long wavelength cones in 2 degree matches. An independent observation concerning the family was the finding that deuteranomaly was introduced in the third generation. The fourth generation women, all obligate carriers of X-linked achromatopsia, had a 0.5 chance to carry deuteranomaly. Neither carrier state per se is usually associated with expression of deuteranomaly. Three of the five tested expressed deuteranomaly. This finding of deuteranomaly in the carrier females might be a consequence of a double carrier state indicating association between the genes for deuteranomaly and X-linked achromatopsia.

Adolescent↗
PubMed1982

Leber's optic neuropathy I. Clinical studies.

A detailed ophthalmological study on 72 individuals at risk to develop Leber's Optic Neuropathy (L.O.N) has revealed that early signs may be present. These included usually non-specific signs such as tortuosity of the peripapillary capillaries as best seen on fluorescein angiography; hyperaemia and a hazy boundary of the disc; relative paracentral and central scotomata; abnormal VERs; and increases in the error score with the Farnsworth 100-Hue test. The only possibly specific sign may be tortuosity of the capillaries. This conclusion was reached by comparing the findings in individuals at risk with the results of examination of five patients seen during the acute phase of L.O.N. One of the persons at risk, who had many early signs, developed L.O.N. 6 months after being studied. In 7 of 13 carriers abnormalities were observed that resembled those seen in certain individuals at risk.

Adolescent↗
PubMed1982

Leber's optic neuropathy II. Fluorescein angiographic studies.

Fluorescein angiography was performed in 71 persons at risk to develop Leber's Optic Neuropathy (L.O.N.), in 10 females carriers of this disease and in 5 patients during the acute phase. The examination was performed in three university eye clinics. The angiograms were randomly mixed with an equal number of 'controls' and reviewed in a blind fashion on two occasions by two observers. A scoring system was developed on the basis of the peripapillary microvascular changes known to occur in the acute phase of L.O.N. All 5 patients could be recognised in this manner. In the pictures of one of the clinics, which were of good quality, a significant difference in scoring between the at risk and control groups appeared to exist. The results suggest that carriers also may have the same fluorescein angiographic abnormalities. One man from the at risk group who obtained high abnormal scores-identical to patients in the acute phase-developed L.O.N. 6 months later.

Acute Disease↗
PubMed1982

Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage.

Eleven patients belonging to two generations of a Dutch family with cerebral and cerebellar haemorrhage, haemorrhagic infarction and infarction are described. Their ages varied from 44 to 58 years. The principal clinical characteristics was recurring cerebral haemorrhages, sometimes preceded by a history of migrainous headaches or mental changes. In 4 of the 6 autopsied cases, old and new multiple cerebral haemorrhagic infarcts and infarcts were found, in one case a single cerebral haemorrhage and in another a cerebellar haemorrhage. In 5 cases this resulted in secondary subarachnoid haemorrhage. In one case the infarcts were only slightly haemorrhagic and did not result in subarachnoid haemorrhage. This patient presented as dementia. Microscopically, in these 6 cases and in one biopsy specimen hyaline thickening of the walls of cortical arterioles was found. The arteries of the arachnoid showed marked tortuosity, concentric proliferation, and focal hyalinization of the walls. Amyloid was found in the hyalinized vessels in 5 cases, but not outside the central nervous system. We believe that we are dealing with an inherited disorder with an autosomal dominated mode of inheritance, in which microangiopathy leads to cerebral haemorrhage and (haemorrhagic) infarction. It seems likely that amyloidosis underlies the angiopathy, and that this family suffers from a condition similar to the one described by Gudmundsson in 1972.

Adult↗
PubMed1982

Primary choroidal and cutaneous melanomas, bilateral choroidal melanomas, and familial occurrence of melanomas.

The medical history of a patient with a familial atypical multiple more melanoma syndrome revealed a combination of rare findings: occurrence of a melanoma in both eyes, development of 3 separate skin melanomas, and occurrence of other malignancies in the family. Another patient developed a choroidal and a skin melanoma, but there were no known malignancies in the family. A third patient with a choroidal melanoma had a mother with an ethmoidal melanoma.

Choroid Neoplasms↗