Swiss Archives of Neurology, Psychiatry and Psychotherapy

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by Thomas Dorn

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 195-202; https://doi.org/10.4414/sanp.2001.01232 - 1 Jan 2001

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Abstract

Mitochondrial cytopathies are genetically determined diseases caused by dysfunction of the oxidative phosphorylation in the mitochondria. This group of diseases was first recognised when myopathies with structural abnormal mitochondria were studied. Later it was shown that disturbance of respiratory chain function was the [...] Read more.

Mitochondrial cytopathies are genetically determined diseases caused by dysfunction of the oxidative phosphorylation in the mitochondria. This group of diseases was first recognised when myopathies with structural abnormal mitochondria were studied. Later it was shown that disturbance of respiratory chain function was the crucial biochemical marker of these diseases which can also affect the nervous system and other organs. Finally it became evident that a lot of these inborn errors of metabolism are caused by mutations in the mitochondrial genome. These entities are characterised by maternal transmission, heteroplasmia, threshold effect, and replicative segregation explaining the great variation of phenotype and age of manifestation. Diagnosis and proof of mutation in mitochondrial DNA are very difficult and often time consuming. At present no therapy exists with an effect proven under scientific conditions. Nevertheless, exact diagnosis is the prerequisite for adequate symptomatic therapy and prevention of complications. Furthermore, it determines genetic counselling. Full article

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Migraine – advances in genetic research and possible link to neurophysiological abnormalities

by Peter S. Sándor, R. M. Agostia R. M. Agostia and J. Schoenen

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 183-193; https://doi.org/10.4414/sanp.2001.01231 - 1 Jan 2001

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Abstract

Some important steps forward were achieved in recent years in migraine research. A number of mutations were described in the monogenic subtype of migraine with aura, familial hemiplegic migraine, partly with some clinical overlap to the allelic disorders, episodic ataxia type 2 and [...] Read more.

Some important steps forward were achieved in recent years in migraine research. A number of mutations were described in the monogenic subtype of migraine with aura, familial hemiplegic migraine, partly with some clinical overlap to the allelic disorders, episodic ataxia type 2 and spinocerebellar ataxia type 6. Migraine is now considered a neuro-vascular headache disorder and genetic studies point towards migraine in part as a central channelopathy, but also as a complex genetic disorder where genetic and environmental factors are interrelated. There is evidence that certain neurophysiological abnormalities, like deficient cortical information processing and diminished mitochondrial energy reserve, may be interictal endophenotypic markers of the genetic vulnerability to migraine; it remains to be proven that they also are of pathophysiological importance. Other neurophysiological abnormalities, such as subclinical impairment of cerebellar function and of neuromuscular transmission, are unlikely to play a causative role in migraine. If they are due, as suspected, to dysfunctioning neuronal ion channels, they could be useful for the selection of patients for genetic analyses by better defining the phenotype of subgroups of migraineurs. In future studies correlations between neurophysiological and genetic data need to be emphasised. Full article

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Hereditary spastic paraplegia

by Jean-Marc Burgunder

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 177-182; https://doi.org/10.4414/sanp.2001.01230 - 1 Jan 2001

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Abstract

Hereditary spastic paraplegia (HSP) is a group of disorders characterised by continuously progressive paraplegia occurring at a wide variety of ages and sometimes accompanied by additional symptoms. Recent progress in hereditary spastic paraplegia molecular genetics has lead to the discovery of several new [...] Read more.

Hereditary spastic paraplegia (HSP) is a group of disorders characterised by continuously progressive paraplegia occurring at a wide variety of ages and sometimes accompanied by additional symptoms. Recent progress in hereditary spastic paraplegia molecular genetics has lead to the discovery of several new genes and loci, allowing first insights into the pathophysiology of this disorder. It is therefore timely to review the data about hereditary spastic paraplegia. Full article

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Genetics of Charcot-Marie-Tooth disease

by Peter Young and U. Suter

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 172-176; https://doi.org/10.4414/sanp.2001.01229 - 1 Jan 2001

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Abstract

Charcot-Marie-Tooth disease (CMT) is a group of genetic peripheral neuropathies which is associated with a broad variety of clinical and genetic features. Most CMT syndromes are characterised by a combination of progressive muscle weakness and atrophy with a distally pronounced sensory dysfunction. Bone [...] Read more.

Charcot-Marie-Tooth disease (CMT) is a group of genetic peripheral neuropathies which is associated with a broad variety of clinical and genetic features. Most CMT syndromes are characterised by a combination of progressive muscle weakness and atrophy with a distally pronounced sensory dysfunction. Bone deformities like pes cavus or hammer toes are frequently associated symptoms. However, the muscular impairment is the most prominent clinical sign. The severity of disability varies according to the different subclasses. It is well known that even in the same subclass of CMT syndrome the phenotypic expression of the disease is heterogeneous. Ten different candidate genes have been identified for different CMT syndromes. Electrophysiological and histological findings build the outer frame for the classification while the distinction into several subgroups is made on the basis of the underlying genetic alteration. Although no therapeutic strategies have been developed so far, genetic testing is available for the most frequent forms of Charcot-Marie-Tooth disease. Full article

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La génétique du syndrome parkinsonien

by H. Russmann, J. Ghika and François Vingerhoets

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 164-171; https://doi.org/10.4414/sanp.2001.01228 - 1 Jan 2001

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Abstract

Familial parkinsonisms may be separated into two groups of hereditary parkinsonism: one that looks like idiopathic parkinsonism and another including other neuroheredopathies associated with parkinsonism. The gene loci of six forms of familial parkinsonism and several other neuroheredopathies have been discovered. The mutation [...] Read more.

Familial parkinsonisms may be separated into two groups of hereditary parkinsonism: one that looks like idiopathic parkinsonism and another including other neuroheredopathies associated with parkinsonism. The gene loci of six forms of familial parkinsonism and several other neuroheredopathies have been discovered. The mutation of PARK 1 is associated with a parkinsonism very similar to idiopathic parkinsonism. It has enlightened the role of alpha-synuclein and its participation into the development of Lewy bodies leading to the concept of synucleinopathies. Understanding the role of changes of protein structure and of their degradation in neuronal degeneration may help to understand idiopathic parkinsonism, although the hereditary parkinsonisms stay rare and the aetiology of idiopathic parkinsonism remains unknown. Full article

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Hereditäre Chorea-Syndrome

by Hans H. Jung

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 156-163; https://doi.org/10.4414/sanp.2001.01227 - 1 Jan 2001

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Abstract

The prototype of a hereditary chorea syndrome is Huntington’s disease (HD). The clinical triad of Huntington’s disease includes an involuntary movement disorder, psychiatric symptoms, and cognitive impairment. Other hereditary chorea syndromes are the dentato-rubro-pallido-luysian atrophy (DRPLA),choreoacanthocytosis (CHAC), McLeod syndrome (MLS), and benign hereditary [...] Read more.

The prototype of a hereditary chorea syndrome is Huntington’s disease (HD). The clinical triad of Huntington’s disease includes an involuntary movement disorder, psychiatric symptoms, and cognitive impairment. Other hereditary chorea syndromes are the dentato-rubro-pallido-luysian atrophy (DRPLA),choreoacanthocytosis (CHAC), McLeod syndrome (MLS), and benign hereditary chorea (BHC). The chromosomal localisations of these conditions were established in the past years. In addition, the responsible genes of Huntington’s disease, DRPLA, CHAC, and McLeod syndrome have been identified, offering the possibility for a direct genetic analysis of affected individuals, and presymptomatic testing for individuals at risk. So far, several transgene animal models for Huntington’s disease have been developed allowing a further insight into the mechanisms of the disease. This rapidly accumulating knowledge will hopefully lead in the near future to the development of efficient therapies that might attenuate or even prevent these otherwise relentlessly progressive neuro-degenerative disorders. Full article

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Gene, Mutationen und Epilepsie

by Ortrud K. Steinlein

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 149-155; https://doi.org/10.4414/sanp.2001.01226 - 1 Jan 2001

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Abstract

Genetic factors play a major role in the aetiology of idiopathic epilepsies. For some monogenetic epilepsies the underlying gene defects have already been identified, demonstrating the important role ion channels are playing in focal as well as generalised epilepsies. Mutations in different subunits [...] Read more.

Genetic factors play a major role in the aetiology of idiopathic epilepsies. For some monogenetic epilepsies the underlying gene defects have already been identified, demonstrating the important role ion channels are playing in focal as well as generalised epilepsies. Mutations in different subunits of an ion channel can lead to the same subtype of idiopathic epilepsy, confirming the heterogeneity which had been indicated by previous linkage studies. Even for some of the common forms of idiopathic epilepsy, like childhood or juvenile absence epilepsy and juvenile myoclonic epilepsy, the genomic localisation of some genes has already been narrowed down. Full article

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The molecular genetics of the spinocerebellar ataxias

by Thomas Klockgether

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 143-148; https://doi.org/10.4414/sanp.2001.01225 - 1 Jan 2001

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Abstract

The spinocerebellar ataxias (SCA) are a group of autosomal dominantly inherited ataxias that are clinically characterised by progressive ataxia. Until now, 13 genetically distinct SCA subtypes have been identified. In 5 of these disorders (SCA1, SCA2, SCA3, SCA6, SCA7), the mutation is a [...] Read more.

The spinocerebellar ataxias (SCA) are a group of autosomal dominantly inherited ataxias that are clinically characterised by progressive ataxia. Until now, 13 genetically distinct SCA subtypes have been identified. In 5 of these disorders (SCA1, SCA2, SCA3, SCA6, SCA7), the mutation is a translated, expanded CAG repeat. SCA8 is caused by a CTG expansion in the 3_ untranslated region, SCA10 by an intronic pentanucleotide repeat expansion, and SCA12 by a CAG repeat expansion in the 5_ untranslated region of the respective genes. In all other SCAs, the mutations remain unknown. In most SCAs, ataxia is not an isolated symptom, but occurs in combination with a variety of non-cerebellar symptoms. In contrast, SCA5, SCA6, SCA8, SCA11 and SCA14 are characterised by an almost purely cerebellar phenotype. Full article

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Molekulargenetische Diagnostik und genetische Beratung bei vererbten neurologischen Krankheiten

by Martin Hergersberg

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 138-142; https://doi.org/10.4414/sanp.2001.01224 - 1 Jan 2001

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Abstract

The Mendelian inheritance of diseases caused by mutations in a single gene (monogenic diseases) has been known for more than a hundred years. Approximately fifty years ago the nature of a gene as a piece of DNA encoding the information for the amino [...] Read more.

The Mendelian inheritance of diseases caused by mutations in a single gene (monogenic diseases) has been known for more than a hundred years. Approximately fifty years ago the nature of a gene as a piece of DNA encoding the information for the amino acid sequence of a protein was recognised. During the last twenty-five years many of the genes changed (mutated) in monogenically inherited diseases have been identified. This information contributes to the understanding of the pathogenesis of neurological diseases and disease susceptibility. At the moment, the interest is focused on the increased possibilities for diagnostic and prognostic purposes, and on the genetic counselling problems arising in the case of non-treatable inherited diseases. There is the hope, however, that this new knowledge will also be translated into new therapeutic strategies. Full article

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Open AccessEditorial

Neurogenetik

by Hans H. Jung

Swiss Arch. Neurol. Psychiatry Psychother. 2001, 152(4), 137; https://doi.org/10.4414/sanp.2001.01223 - 1 Jan 2001

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Abstract

In den letzten Jahren haben die Fortschritte der Molekulargenetik zu einem exponentiellen Wissenszuwachs in den medizinischen Wissenschaften geführt [...] Full article

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Swiss Arch. Neurol. Psychiatry Psychother., Volume 152, Issue 4 (01 2001) – 10 articles , Pages 137-202

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