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Chorea Huntington Morbus Huntington Juv. form: Westphal variant 1872 described by George Huntington Frequency/prevalence 0,6 %o in white people less in black people Equally in males and females 3000 – 8000 in Germany. Symptoms Motor: Hyperkinetic hypoton uncontrolled movements,

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Chorea Huntington

Morbus Huntington

Juv. form: Westphal variant

1872 described by George Huntington

Frequency/prevalence

0,6 %o in white people

less in black people

Equally in males and females

3000 – 8000 in Germany


Symptoms

Motor:

Hyperkinetic hypoton

uncontrolled movements,

distally accentuated

like in a confused or embarrassed state

Dancing like movements (Veitstanz)

grimacing

Tongue, speech, swallowing

Mental:

Schizophrenia-like psychotic symptoms

Dementia


Time course

Occurence: Beyond the age of 30 - 50 years

after the reproductive phase

Irrestable progressive

Leading to death after 5- 20 years


Cause

A dominant gene with 100% penetrance

Inheritance: Autosomal dominant

No sex differences

1 parent bears the gene: 50 % of the children will fall ill

1983 HD locus on the short arm of chromosome 4

1995 HD a polyglutamine disease: Protein Huntingtin

enhanced CAG repeat frequency

CAG triplett repeat normal: 11 -34

in HD 37 – 86

correlation between repeat frequency and

onset of the diesease


Morphology

A disease of the basal ganglia / striatum

In HD the spiny I neurons of the striatum degenerate

(GABAergic, ENKergic)

Predominantly:

the neurons giving rise to the indirect pathway

Neurochemistry

GABAergic projection to the GPe


The neurons of the indirect pathway (ENK/GABA)

In the striatum not affected:

Aspiny neurons

Somatostatin containing neurons

NP-Y neurons

NADPH-Diaphorase/NO-Synthase containing neurons


CORTEX

GLU

GLU

GLU

GABA

GABA

THAL

STRIATUM

ACH

SNr

D1(+)

GPi

GPe

D2(-)

GABA

GABA

GABA

DA

GABA

GABA

GLU

SNc

STN

GLU

DA


Therapy

No causal therapy available

GABA agonism is too unselective

Unspecific therapy:

Sedative drugs

neuroleptics


Animal models

Destruction of striatal spiny neurons

Sparing interneurons containing:

Somatostatin

Neuropeptid Y

NADPH-diapohrase/NO synthase positive neurons

Tools: Excitotoxin Quinolinic acid

Transgenic animals


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