Skip header and navigation

Refine By

7 records – page 1 of 1.

[«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?].

https://arctichealth.org/en/permalink/ahliterature276278
Source
Tidsskr Nor Laegeforen. 2016 Mar 15;136(5):437-40
Publication Type
Article
Date
Mar-15-2016
Author
Magne Nylenna
Noralv Breivik
Arvid Heiberg
Øivind Larsen
Source
Tidsskr Nor Laegeforen. 2016 Mar 15;136(5):437-40
Date
Mar-15-2016
Language
Norwegian
Publication Type
Article
Keywords
Child
Female
History, 19th Century
Humans
Magnetic Resonance Imaging
Male
Norway
Pantothenate Kinase-Associated Neurodegeneration - diagnosis - history
Rare Diseases - history
Siblings
Abstract
Was district medical officer Jensen the first doctor to describe patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN) in Volda in 1830? A case series of four siblings with the same disease written by district medical officer Peter Jensen (1799-1832) in Aalesund in 1830, was published in the Norwegian medical journal Eyr in 1832. The children, who were healthy almost up to school age, developed dystonic involuntary movements and deformities in all extremities, lost their ability to speak and were emaciated before they died at around the age of nine years. Further information about the family and a fifth affected child has been found in the parish records. The clinical picture is consistent with Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare condition with basal ganglia iron deposition, described in 1922 by the German neuropathologists Julius Hallervorden (1882-1965) and Hugo Spatz (1888-1969). The disease was formerly called Hallervorden-Spatz syndrome, but because of the medical activities undertaken by these two researchers before and during the Second World War, this eponym is no longer recommended.
PubMed ID
26983149 View in PubMed
Less detail

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

https://arctichealth.org/en/permalink/ahliterature163673
Source
Acta Ophthalmol Scand. 2007 May;85(3):287-97
Publication Type
Article
Date
May-2007
Author
Jan Grøndahl
Ruth Riise
Arvid Heiberg
Trond Leren
Terje Christoffersen
Ragnheidur Bragadottir
Author Affiliation
Department of Medical Genetics, University Hospital, Rikshospitalet, Oslo, Norway.
Source
Acta Ophthalmol Scand. 2007 May;85(3):287-97
Date
May-2007
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
DNA Mutational Analysis
Dark Adaptation
Electroretinography
Eye Proteins - genetics
Female
Follow-Up Studies
Frameshift Mutation
Genes, Dominant
Humans
IMP Dehydrogenase - genetics
Intermediate Filament Proteins - genetics
Male
Membrane Glycoproteins - genetics
Middle Aged
Mutation, Missense
Nerve Tissue Proteins - genetics
Norway - epidemiology
Pedigree
Peripherins
Phenotype
Photography
Polymerase Chain Reaction
Retinitis Pigmentosa - diagnosis - epidemiology - genetics
Rhodopsin - genetics
Visual Fields
Abstract
To examine the clinical picture and molecular genetics of 12 Norwegian families with autosomal dominant retinitis pigmentosa (adRP) in order to achieve a genotype-phenotype correlation.
In addition to a clinical ophthalmological examination, fundus photography, dark adaptometry and electroretinography were performed. Four genes were analysed: rhodopsin (RHO); retinitis pigmentosa 1 (RP1); retinal degeneration slow/peripherin (RDS/peripherin), and inosine monophosphate dehydrogenase 1 (IMPDH1). Seven of the families had been examined about 20 years previously. A total of 63 patients or first-degree relatives (aged 18-79 years) were examined.
Mutations were found only in the RHO gene. Seven families were given a diagnosis of classical RP. Two of them had novel mutation 1003delG, and one family had the mutation V345M. Four families had pericentral retinal dystrophy (PRD), two families with the mutation A164V and one with novel mutation I179F. One family was given a diagnosis of central and pericentral retinal dystrophy (CPRD), a special type of cone/rod dystrophy, and no mutation was found.
Six of 12 families had an RHO mutation. The mutation V345M and the novel mutation 1003delG both caused classical RP, the former indicating the most unfavourable prognosis. Two of the families with PRD had the A164V mutation with a favourable prognosis, whereas the novel mutation I179F caused PRD with extremely variable expressivity.
PubMed ID
17488458 View in PubMed
Less detail

Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.

https://arctichealth.org/en/permalink/ahliterature125481
Source
Neuromuscul Disord. 2012 Jun;22(6):511-21
Publication Type
Article
Date
Jun-2012
Author
Rune Østern
Toril Fagerheim
Kristin Ørstavik
Trygve Holmøy
Arvid Heiberg
Inger Lund-Petersen
Tim M Strom
Øivind Nilssen
Arve Dahl
Author Affiliation
Department of Clinical Medicine - Medical Genetics, University of Tromsø, NO9037 Tromsø, Norway. Rune.Andre.Helland.Ostern@unn.no
Source
Neuromuscul Disord. 2012 Jun;22(6):511-21
Date
Jun-2012
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Aged
Aged, 80 and over
Alleles
Charcot-Marie-Tooth Disease - genetics
Female
Gene Frequency
Genotype
Haplotypes
Humans
Male
Middle Aged
Motor Neuron Disease - genetics
Mutation
Neural Conduction
Norway
Pedigree
Phenotype
Superoxide Dismutase - genetics
Abstract
Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and familial amyotrophic lateral sclerosis may cause overlapping clinical phenotypes. We performed whole genome linkage analysis, haplotype analysis, sequencing and detailed clinical and neurophysiological investigations in a large Norwegian kindred with a condition that clinically had been classified as Charcot Marie Tooth type 2. The mutation c.140A>G, p.His47Arg (alias p.His46Arg or H46R) in the superoxide dismutase 1 gene (SOD1) segregated with the disease. The patients present a hereditary motor neuropathy-like clinical picture and long survival (mean 29years). To our knowledge, this is the first extensive report describing a large non-Japanese kindred. The prognostic implications of the condition seen in this family have little in common with what is normally associated with sporadic amyotrophic lateral sclerosis and illustrates the complexity of the genetic etiology of lower motor neuron disease.
PubMed ID
22475618 View in PubMed
Less detail

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

https://arctichealth.org/en/permalink/ahliterature164518
Source
Acta Ophthalmol Scand. 2007 Aug;85(5):557-62
Publication Type
Article
Date
Aug-2007
Author
Ruth Riise
Jan Ygge
Carl Lindman
Asbjørg Stray-Pedersen
Toke Bek
Olaug Kristin Rødningen
Arvid Heiberg
Author Affiliation
Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway. ruthr@online.no
Source
Acta Ophthalmol Scand. 2007 Aug;85(5):557-62
Date
Aug-2007
Language
English
Publication Type
Article
Keywords
Accommodation, Ocular
Adolescent
Adult
Apraxias - diagnosis
Ataxia Telangiectasia - diagnosis
Capillaries - pathology
Child
Child, Preschool
Conjunctiva - blood supply
Conjunctival Diseases - diagnosis
Female
Genotype
Humans
Male
Norway
Ocular Motility Disorders - diagnosis
Phenotype
Photography
Prospective Studies
Saccades
Abstract
To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years.
Ten Norwegian patients with AT aged 2-22 years (three females, seven males) were examined. The diagnosis was confirmed clinically as well as with molecular genetic studies. Conventional ophthalmologic examination was performed and supplemented by photographs of the conjunctiva, video recordings and registration of eye motility in five consecutive years. Additionally conjunctival biopsies were performed at the end of the follow-up period.
General ataxia was usually detected when the child started to walk. All children over the age of 4 years had abnormal saccade movements, a form of ocular motor apraxia. Conjunctival telangiectasias were mostly visible at 4-5 years, primarily within the palpebral fissure. Immunohistochemical examination of conjunctival biopsies showed an increased number of cross-sections of blood vessels and neurons surrounded by glial tissue. There was a tendency to slightly earlier onset of conjunctival telangiectasias in the patients homozygous for a founder mutation compared with the other patients.
The diagnosis of AT can be supported at preschool age by the onset of ocular motor apraxia and conjunctival telangiectasias. The findings become more prominent with age. The conjunctival telangiectasias seem to appear slightly earlier in the patients who are homozygous for a Norwegian founder mutation than in the rest of the patients.
PubMed ID
17376192 View in PubMed
Less detail

Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.

https://arctichealth.org/en/permalink/ahliterature290081
Source
Int J Mol Sci. 2017 May 18; 18(5):
Publication Type
Journal Article
Date
May-18-2017
Author
Jarle Johannessen
Terje Nærland
Sigrun Hope
Tonje Torske
Anne Lise Høyland
Jana Strohmaier
Arvid Heiberg
Marcella Rietschel
Srdjan Djurovic
Ole A Andreassen
Author Affiliation
NORMENT, KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo 0424, Norway. jarle@autismeforeningen.no.
Source
Int J Mol Sci. 2017 May 18; 18(5):
Date
May-18-2017
Language
English
Publication Type
Journal Article
Keywords
Attitude
Autism Spectrum Disorder - diagnosis - genetics
Autistic Disorder - diagnosis - genetics
Female
Genetic Testing
Humans
Linear Models
Male
Norway
Parents - psychology
Surveys and Questionnaires
Abstract
Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents' attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents' attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child's ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49-67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child's future and cause family conflicts. Parents against CGT (9%) were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children's ASD diagnosis had a weak positive association with parent's positive attitudes to CGT (p-values range from
Notes
Cites: Clin Pediatr (Phila). 2013 Feb;52(2):139-46 PMID 23193169
Cites: Pediatrics. 2012 Jul;130(1):e152-8 PMID 22711729
Cites: J Autism Dev Disord. 2015 Oct;45(10 ):3262-75 PMID 26066358
Cites: Autism. 2016 Apr;20(3):353-63 PMID 26014839
Cites: Int J Mol Sci. 2016 Jan 29;17 (2):null PMID 26840296
Cites: J Autism Dev Disord. 2015 Aug;45(8):2582-93 PMID 25800867
Cites: Dev Disabil Res Rev. 2011;17(1):27-31 PMID 22447752
Cites: J Med Genet. 2009 Jan;46(1):1-8 PMID 18728070
Cites: Genet Med. 2013 Apr;15(4):274-81 PMID 23288207
Cites: Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):305-16 PMID 26870917
Cites: Eur J Hum Genet. 2016 Jan;24(1):2-5 PMID 26508566
Cites: Genet Med. 2014 Sep;16(9):657-64 PMID 24625444
Cites: Genet Med. 2012 Jan;14(1):115-21 PMID 22237440
Cites: Nat Rev Genet. 2016 Aug 16;17 (9):507-22 PMID 27528417
Cites: Int J Exerc Sci. 2015 Jul 1;8(3):297-302 PMID 27182418
Cites: J Genet Couns. 2008 Feb;17(1):30-63 PMID 17968638
Cites: Mol Psychiatry. 2007 Jan;12(1):2-22 PMID 17033636
Cites: Eur J Hum Genet. 2015 Apr;23(4):452-8 PMID 24916644
Cites: Issues Compr Pediatr Nurs. 2015 Sep 14;:1-49 PMID 26367769
Cites: Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):600-8 PMID 26198689
Cites: Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):300 PMID 26614380
Cites: Int J Mol Sci. 2016 Dec 09;17 (12 ): PMID 27941670
Cites: J Genet Couns. 2009 Oct;18(5):507-19 PMID 19488842
Cites: Curr Genet Med Rep. 2016;4:147-153 PMID 27570713
Cites: J Child Psychol Psychiatry. 2005 Sep;46(9):963-71 PMID 16108999
Cites: Eur J Cancer. 2012 Nov;48(16):3052-62 PMID 22726816
Cites: J Spec Pediatr Nurs. 2009 Oct;14(4):284-94 PMID 19796327
Cites: N Engl J Med. 2015 Feb 26;372(9):793-5 PMID 25635347
Cites: J Autism Dev Disord. 1988 Mar;18(1):31-40 PMID 3372457
Cites: Nat Rev Neurosci. 2011 Sep 20;12 (10 ):603-12 PMID 21931335
Cites: Community Genet. 2005;8(2):94-102 PMID 15925885
Cites: Public Health Genomics. 2010;13(4):215-23 PMID 20395690
Cites: JAMA. 2015 Sep 1;314(9):895-903 PMID 26325558
Cites: Lancet. 2014 Mar 8;383(9920):896-910 PMID 24074734
Cites: BMC Med Ethics. 2016 Nov 4;17 (1):67 PMID 27809825
Cites: Pediatrics. 2015 Oct;136 Suppl 1:S10-40 PMID 26430168
Cites: Curr Psychiatry Rep. 2013 Jan;15(1):334 PMID 23250815
Cites: Nat Med. 2015 Feb;21(2):185-91 PMID 25621899
Cites: Psychiatr Genet. 2016 Apr;26(2):74-80 PMID 26867185
Cites: Autism. 2016 Apr;20(3):259-61 PMID 27437550
Cites: Issues Ment Health Nurs. 2010 Oct;31(10):631-45 PMID 20854036
Cites: Eur J Med Genet. 2016 Sep;59(9):452-8 PMID 27544064
Cites: J Autism Dev Disord. 2015 Jul;45(7):2157-67 PMID 25697737
Cites: Am J Med Genet C Semin Med Genet. 2006 Feb 15;142C(1):52-7 PMID 16419100
Cites: Pediatrics. 2003 Feb;111(2):407-16 PMID 12563071
Cites: Am J Med Genet A. 2014 Oct;164A(10):2592-600 PMID 25131847
Cites: Psychol Med. 2015 Feb;45(3):601-13 PMID 25108395
Cites: J Autism Dev Disord. 2015 Nov;45(11):3509-19 PMID 26077953
Cites: J Community Genet. 2012 Jan 28;:null PMID 22287154
Cites: Pediatrics. 2011 Sep;128(3):e488-95 PMID 21844053
Cites: Hum Genet. 2011 Jul;130(1):123-48 PMID 21701786
Cites: Genet Med. 2013 May;15(5):399-407 PMID 23519317
PubMed ID
28524073 View in PubMed
Less detail

Parents' attitudes toward genetic research in autism spectrum disorder.

https://arctichealth.org/en/permalink/ahliterature277170
Source
Psychiatr Genet. 2016 Apr;26(2):74-80
Publication Type
Article
Date
Apr-2016
Author
Jarle Johannessen
Terje Nærland
Cinnamon Bloss
Marcella Rietschel
Jana Strohmaier
Elen Gjevik
Arvid Heiberg
Srdjan Djurovic
Ole A Andreassen
Source
Psychiatr Genet. 2016 Apr;26(2):74-80
Date
Apr-2016
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Autism Spectrum Disorder - genetics
Child
Child, Preschool
Female
Genetic Research - ethics
Health Knowledge, Attitudes, Practice
Humans
Infant
Infant, Newborn
Linear Models
Male
Middle Aged
Norway
Parents - psychology
Societies, Medical
Surveys and Questionnaires
Young Adult
Abstract
Genetic research in autism spectrum disorder (ASD) is mainly performed in minors who are legally unable to provide consent. Thus, knowledge of the attitudes, fears, and expectations toward genetic research of the parents is important. Knowledge of the attitudes toward genetic research will improve cooperation between researchers and participants, and help establish confidence in ASD genetic research. The present study aimed to assess these attitudes.
Questionnaire-based assessments of attitudes toward genetic research and toward procedures in genetic research of n=1455 parents of individuals with ASD were performed.
The main motivation for participation in genetic research is to gain more knowledge of the causes and disease mechanisms of ASD (83.6%), and to contribute toward development of improved treatment in the future (63.7%). The parents also had a positive attitude towards storing genetic information (54.3%) and they requested confidentiality of data (82.9%) and expressed a need to be informed about the purpose (89%) and progress of the research (83.7%). We found a slightly more positive attitude to participation in genetic research among older parents (P=0.015), among fathers compared with mothers (P=0.01), among parents of girls compared with boys (P=0.03), and infantile autism compared with Asperger syndrome (P=0.002). However, linear regression analysis showed that parent and child characteristics seem to have too small an influence on attitudes toward genetic research to be of any relevance (R(2)=0.002-0.02).
Parents of children with ASD have, in general, a very positive attitude toward genetic research. Data confidentiality is important, and they express a need for information on the purpose and progress of the research.
PubMed ID
26867185 View in PubMed
Less detail

[Rarity--a separate criterion used in prioritization?].

https://arctichealth.org/en/permalink/ahliterature104759
Source
Tidsskr Nor Laegeforen. 2014 Mar 11;134(5):534-6
Publication Type
Article
Date
Mar-11-2014
Author
Arvid Heiberg
Jan Frich
John-Arne Røttingen
Source
Tidsskr Nor Laegeforen. 2014 Mar 11;134(5):534-6
Date
Mar-11-2014
Language
Norwegian
Publication Type
Article
Keywords
Health Policy
Health Priorities - organization & administration
Humans
Norway
Rare Diseases - therapy
Notes
Comment In: Tidsskr Nor Laegeforen. 2014 Apr 29;134(8):80924780960
Comment In: Tidsskr Nor Laegeforen. 2014 Apr 29;134(8):809-1024780961
PubMed ID
24621914 View in PubMed
Less detail

7 records – page 1 of 1.