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Wilson Disease Neurologic Involvement

Movement disorders, dystonia, and psychiatric findings developing as a result of copper accumulation in the basal ganglia.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

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What is Wilson Disease Neurologic Involvement?

Wilson disease (WD, hepatolenticular degeneration) is an autosomal recessive copper metabolism disease developing as a result of mutations in the ATP7B gene (chromosome 13); copper accumulation occurs in the liver, brain, kidney, and cornea due to impaired copper-bile excretion; prevalence is 1/30,000-1/50,000.

Clinical presentations: hepatic form (40%, in 5-15 years - elevated transaminases, hepatitis, cirrhosis, fulminant liver failure), neurologic form (40-50%, in 15-30 years - movement disorders), psychiatric form (10%, depression, behavioral changes, psychosis), Coombs-negative hemolytic anemia, renal Fanconi syndrome.

Neurologic findings: dysarthria (most common, 80% - speech impairment, slurred speech, monotone), dystonia (60% - facial 'risus sardonicus', cervical, generalized), tremor (50% - 'wing-beating tremor' is characteristic), parkinsonism (50% - bradykinesia, rigidity, gait disturbance), ataxia, dysphagia, drooling, autonomic dysfunction. Cognitive: executive dysfunction, mild cognitive impairment, dementia (advanced). Diagnosis: serum ceruloplasmin <20 mg/dL, 24-hour urine copper >100 µg/day, Kayser-Fleischer ring (slit lamp - specific for neurologic form 95%), ATP7B genetic test, brain MRI ('panda face', 'face of giant panda' classic), liver biopsy (>250 µg/g dry weight). Treatment: chelating therapy (D-penicillamine, trientine), zinc, low-copper diet, liver transplantation.

Symptoms

Dysarthria (slurred-monotonous speech, 80% - most common)
Dystonia (facial 'risus sardonicus' grimace, cervical, generalized)
Tremor (resting, postural, intentional, 'wing-beating')
Parkinsonism (bradykinesia, rigidity, mask face)
Ataxia (gait disturbance, balance problem)
Dysphagia (swallowing difficulty), drooling
Cognitive findings: executive dysfunction, attention problem, dementia
Psychiatric findings: depression (in 40%), psychosis, behavioral change
Hepatic findings (often coexists): jaundice, ascites, hepatomegaly
Eye findings: Kayser-Fleischer ring, sunflower cataract
Sleep disorders, micrography
School-work failure (in adolescents)

Risk Factors

Family history (autosomal recessive transmission, parents heterozygous)
Sibling Wilson disease
Pre-15 years hepatic findings + 15-30 years neurologic findings
Genetic mutations: ATP7B (>800 mutations identified)
Consanguineous marriage
Founder effect (Mediterranean, Eastern European population)
Asymptomatic homozygote (50% of family members)
High copper intake (occupational, water source)
Pregnancy (female form deterioration)
Hepatotoxic drugs (worsening)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • New onset dysarthria, drooling in young (15-30) patient
  • Bilateral fine tremor, especially with walking
  • Persistent unexplained behavioral change in adolescent
  • Familial Wilson disease + new onset symptoms
  • Liver dysfunction + tremor
  • Persistent severe depression in young (drug ineffective)
  • Sudden academic decline + tremor in young patient
  • Coombs-negative hemolytic anemia + liver dysfunction
  • Sister-brother Wilson diagnosis + asymptomatic (screening)

Treatment Methods

01
Serum ceruloplasmin (<20 mg/dL diagnostic clue)
02
24-hour urine copper (>100 µg/day diagnostic)
03
Slit lamp examination (Kayser-Fleischer ring)
04
Brain MRI (basal ganglia hyperintensity, 'panda face' midbrain)
05
Liver biopsy + copper measurement (>250 µg/g dry weight)
06
ATP7B genetic test (definitive diagnosis)
07
Family screening (siblings asymptomatic 50% homozygote)
08
Chelating therapy (first-line):
09
- D-penicillamine 750-1500 mg/day (cheap, side effects: rash, proteinuria, BM suppression)
10
- Trientine 1000-1500 mg/day (D-pen intolerance, less side effects)
11
- Pretreatment 'paradoxical neurologic deterioration' risk (10-50%) - slow titration
12
Zinc (zinc acetate 50 mg 3×/day) - maintenance treatment, asymptomatic
13
Low-copper diet: avoid liver, shellfish, mushroom, nuts, chocolate
14
Symptomatic treatment:
15
- Tremor: trihexyphenidyl, propranolol, primidone
16
- Dystonia: anticholinergic, baclofen, BoNT injection
17
- Parkinsonism: levodopa (often not very effective)
18
- Psychosis: atypical antipsychotic (avoid haloperidol)
19
Speech therapy, physiotherapy, occupational therapy
20
Liver transplantation: fulminant liver failure, advanced cirrhosis (definitive treatment)
21
Lifelong follow-up: 24-hour urine copper, liver enzymes, neurologic examination
22
Pregnancy planning: continue therapy, fetal surveillance
23
Genetic counseling, prenatal diagnosis

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