Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/friedreich-s-ataxia-in-western-norway-N3x9eO5i8w
References (35)
-
Ueber degenerative 4trophie der spinalen Hinterstrange. Virchows Arch -
I. Barrai, M. Mi, N. Morton, N. Yasuda (1965)
ESTIMATION OF PREVALENCE UNDER INCOMPLETE SELECTION.American journal of human genetics, 17
-
(1955)
The Clinical Examination of the Nervous SystemNeurology, 5
-
A. Halliday (1967)
The clinical incidence of myoclonus.Modern trends in neurology, 4 0
-
H. Skre (1974)
Application of a quantitative scoring system in the investigation of some hereditary neurologicaI disordersClinical Genetics, 5
-
(1939)
On hereditary ataxia and spastic paraplegia -
H. Skre (1974)
Spino‐cerebellar ataxia in Western NorwayClinical Genetics, 6
-
G. Preswick (1968)
The neuropathy of Friedreich's ataxia.Proceedings of the Australian Association of Neurologists, 5 1
-
J. Hutton, J. Frost, Jewel Foster (1972)
The Influence of the Cerebellum in Cat Penicillin EpilepsyEpilepsia, 13
-
G. Gilbert, W. Mcentee, G. Glaser (1963)
Familial myoclonus and ataxiaNeurology, 13
-
(1955)
A propos de l’association “Dyssynergia cerebellaris myoclonica” de R -
D. Davies (1949)
THE INTELLIGENCE OF PATIENTS WITH FRIEDREICH'S ATAXIAJournal of Neurology, Neurosurgery & Psychiatry, 12
-
T. Alajouanine, J. Scherrer, F. Contamin, R. Marteau, J. Calvet (1955)
[Association of so-called R. Hunt's dyssynergia cerebellaris myoclonica with Friedreich's spinocerebellar hereditary degeneration; clinical and electromyographic investigations in a case].Revue neurologique, 93 3
-
G. MONRAD-KROHN, S. Refsum (1964)
The Clinical Examination of the Nervous SystemMedical Journal of Australia, 2
-
H. Skre (1974)
Hereditary spastic paraplegia in Western NorwayClinical Genetics, 6
-
(1960)
System degenerations of the cerebellum, brain stem and spinal cord -
R. Julien, L. Halpern (1972)
Effects of Diphenylhydantoin and Other Antiepileptic Drugs on Epileptiform Activity and Purkinje Cell Discharge RatesEpilepsia, 13
-
And HEWER, Norman Robinson (1968)
Diabetes mellitus in Friedreich's ataxia.Journal of Neurology, Neurosurgery & Psychiatry, 31
-
C. Thorén (1962)
Diabetes Mellitus in Friedreich's AtaxiaActa Pædiatrica, 51
-
A. Baker (1934)
Friedreich's Ataxia: A Clinical and Pathological Study.The American journal of pathology, 10 1
-
F. Fraser (1961)
Principles of Human GeneticsDiabetes, 10
-
Robert Dow, Augusto Fernández-Guardiola, Ermanno Manni (1962)
The influence of the cerebellum on experimental epilepsy.Electroencephalography and clinical neurophysiology, 14
-
J. Romeo (1942)
EPILEPSIA ASOCIADA A UN SINDROME INCIPIENTERevista Clinica Espanola, 6
-
C. Thorén (1964)
Cardiomyopathy in Friedreich's Ataxia:With Studies of Cardiovascular and Respiratory FunctionActa Pædiatrica, 53
-
G. Dahlberg (1948)
Genetics of human populations.Advances in genetics, 35 2
-
J. Hunt
DYSSYNERGIA CEREBELLARIS MYOCLONICA—PRIMARY ATROPHY OF THE DENTATE SYSTEM: A CONTRIBUTION TO THE PATHOLOGY AND SYMPTOMATOLOGY OF THE CEREBELLUMBrain, 44
-
Håvard Skre (1972)
NEUROLOGICAL SIGNS IN A NORMAL POPULATIONActa Neurologica Scandinavica, 48
-
I. Cooper (1973)
Effect of chronic stimulation of anterior cerebellum on neurological disease.Lancet, 1 7796
-
(1955)
A propos de l ’ association “ Dyssynergia cerebellaris myo - clonica ” de R . Hunt et Hkrtdo - dtgtnkration spino - ctrCbelIeuse type Friedreich . Etude clinique et electroenckphalique d ’ un cas -
H. Skre (1974)
Genetic and clinical aspects of Charcot‐Marie‐Tooth's diseaseClinical Genetics, 6
-
Sjogren Torsten (1946)
Klinische und erbbiologische Untersuchungen über die HeredoataxienJournal of Nervous and Mental Disease, 104
-
T. Gedde-Dahl (2009)
Population structure in Norway. Inbreeding, distance and kinship.Hereditas, 73 2
-
(1912)
Atassia ereditaria con paramioclono molteplice tipo Unverricht -
D. Davies (1949)
PSYCHIATRIC CHANGES ASSOCIATED WITH FRIEDREICH'S ATAXIAJournal of Neurology, Neurosurgery & Psychiatry, 12
-
J. Hughes, B. Brownell, R. Hewer (1968)
The peripheral sensory pathway in friedreich's ataxia. An examination by light and electron microscopy of the posterior nerve roots, posterior root ganglia, and peripheral sensory nerves in cases of friedreich's ataxia.Brain : a journal of neurology, 91 4
- Publisher
- Wiley
- Copyright
- 1975 Blackwell Munksgaard
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- DOI
- 10.1111/j.1399-0004.1975.tb00331.x
- Publisher site
- See Article on Publisher Site
Abstract
Friedreich's ataxia (FA) was investigated in Western Norway, an area comprising several isolated communities and with a population of 725,000 as at 1 January 1968. The prevalence of FA was estimated to be 1/100,000 in this population. An autosomal recessive mode of transmission appeared likely in all instances. The gene frequency was only 7.9.10--5, but the consanguinity rate was high in the families observed. The mutation rate was relatively high at 1.6.10--5. The clinical features displayed by the 10 examined patients agreed well with those observed by other investigators. Spinal and cerebellar ataxia dominated the clinical picture. In most cases signs of peripheral neuropathy were also observed. Epilepsy was seen in some cases, and also dementia. Unspecific neuropathy, defined according to a scoring system may represent disease manifestation in FA heterozygotes.
Journal
Clinical Genetics – Wiley
Published: Apr 1, 1975