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Neurological Manifestations of Wilson’s Disease. Aleksandar Videnovic, MD, MSc Assistant Professor of Neurology Feinberg School of Medicine Northwestern University Chicago, IL. Samuel Alexnader Kinnier-Wilson.

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neurological manifestations of wilson s disease

Neurological Manifestations of Wilson’s Disease

Aleksandar Videnovic, MD, MSc

Assistant Professor of Neurology

Feinberg School of Medicine

Northwestern University

Chicago, IL

samuel alexnader kinnier wilson
Samuel Alexnader Kinnier-Wilson

1912 - neurological disorder with progressive lenticular degeneration of the brain and cirrhosis of the liver

epidemiology
Epidemiology
  • 17 per million
  • carrier frequency 1 in 122
clinical manifestations
Clinical manifestations
  • Peak incidence – around 17 years
  • Rare after age 35, but present
  • Hepatic, neurologic and psychiatric manifestations
neurologic manifestations
Neurologic manifestations
  • Onset of neurological symptoms – about 15-21 yrs of age
  • Initial presenting symptoms in 18-68% of diagnosed WD patients
  • One or combination of several neurologic symptoms / signs
  • Most common - a movement disorder

Lorinz et al. 2009; Brewer 2005

movement disorders definition
MOVEMENT DISORDERS - definition -

Neurological syndromes in which there is

an excessof movements or

a paucity of movements,

unrelated to weakness or spasticity

excess of movements hyperkinesias
chorea

dystonia

myoclonus

tics

tremors

akathisia

ataxia

athetosis

ballism

hyperekplexia

moving toes / fingers

myokymia

myorhythmia

restless legs

stereotypy

Excessof movements- Hyperkinesias -
paucity of movements hypokinesias
pakinsonism

apraxia

cataplexy

catatonia

hypothyroid slowness

stiff-muscles

Paucity of movements- Hypokinesias -
slide10

BASAL GANGLIA CIRCUITRY

GLU

GLU

Cerebral Cortex

GLU

GLU

Striatum

D2 D1

GLU

GABA

GABA

GPe

Thalamus

DA

SNc

GABA

GLU

STN

GLU

GABA

GPi/SNr

excitatory

inhibitory

Brainstem

Spinal Cord

GLU

GLU

PPN

dystonia
Dystonia
  • A neurological syndrome characterized by involuntary, patterned, sustained, or repetitive muscle contractions of opposing muscles, causing twisting movements and abnormal postures
  • In 11-65% of neurologic WD 1-3
  • Focal, segmental, multifocal, generalized

1 Machado et al. 2006; 2 Oder et al. 1991; 3 Taly et al. 2007

tremor
Tremor
  • In 22-55% of neurologic WD 1,2
  • Can occur at rest, with posture or action
  • “wing-beating” tremor
  • May be confused with essential tremor

1 Walshe et al. 1992; 2 Slotanzadeh et al. 2007

parkinsonism
Parkinsonism
  • Tremor
  • Slowness (bradykinesia)
  • Stiffness (rigidity)
  • Unsteady gait
  • In 19-62% of neurologic WD 1

1 Taly et al. 2007

slide16
Parkinsonism
  • Resting tremor
slide17
Parkinsonism
  • Bradykinesia
chorea
Chorea
  • involuntary, irregular, purposeless, non-rhythmic, abrupt, rapid, un-sustained movements that seem to flow from one body part to another
  • In 6-16% of neurologic WD 1-3
  • Mainly in young-onset disease
  • Rarely isolated, usually together with other involuntary movements

1 Machado et al. 2006; 2 Oder et al. 1991; 3 Taly et al. 2007

dysarthria
Dysarthria
  • Probably the most common neurologic manifestation
  • In 85-97% of neurologic WD 1
  • Mixed type dysarthria

1 Machado et al. 2006

cognition
Cognition
  • Cognitive impairment may be saddle
  • Most commonly:
    • Impulsivity
    • Impaired social judgment
    • Apathy
    • Decreased attention
    • Executive dysfunction
    • Emotional lability
kayser fleischer kf rings
Kayser – Fleischer (KF) Rings
  • seen in nearly 100% of neurologic WS

1 Lorinz et al. 2009

natural history of neurologic wd
Natural history of neurologic WD
  • Mean age of onset -15-21 yeas of age
  • Variable clinical course
  • Fluctuations are common
  • Tremor-predominant disease may have somewhat slower course relative to dystonic forms
  • Younger patients – dystonia and chorea
  • Older patients - tremor
differential diagnosis of neurologic wd
Differential diagnosis of neurologic WD
  • Essential tremor
  • Young-onset Parkinson’s disease
  • Dystonia
  • Huntington disease
  • Benign familial chorea
treatment
Treatment
  • Penicillamine
      • Neurologic worsening
      • Significant side effects
  • Trientine
      • Neurologic worsening
  • Zinc acetate
  • Tetrathiomolybdate
  • Liver transplantation
  • Symptomatic treatment of movement disorders