Autosomal dominant transmission of a mutation of the FLL gene (19q13.3-q13.4), coding for the ferritin light chain.  It leads to iron accumulation in the basal ganglia. The disease usually begins between 40 and 60 years of age, but cases with onset of symptoms shortly before 20 years of age have been observed.

Signs and symptoms are neurological:

-        chorea: choreiform movements generally involve the face, the oro-lingual musculature and the upper limbs, and begin asymmetrically

-        dystonia: may involve the face, tongue, arms and legs, and the onset is also asymmetric. The majority of patients develop a characteristic orofacial dystonia linked to language, leading to dysarthrophonia.

-        bradykinesia,

-        dystonic dysarthria, orolingual dyskinesia

-        characteristic of Parkinson's disease.

Cognitive deficit, behavioral disorders and dysphagia may be late-onset features.

Diagnosis: low serum ferritin levels (10 micrograms/L or less) and iron deposition in basal ganglia on MRI (tiger's eye sign).

Differential diagnosis(es): Huntington's chorea and related syndromes, chorea-acanthocytosis, McLeod syndrome, spino-cerebellar ataxia type 17.

Treatment includes levodopa, tetrabenazine, benzhexol, sulpiride, diazepam, clonazepam and deanol for movement disorders, and botulinum toxin for pain caused by focal dystonia. Treatment also includes nutritional monitoring (appropriate caloric intake) and physiotherapy to preserve mobility. The administration of deferiprone, an iron chelator that crosses the blood-brain barrier, can stabilize the disease.

Anesthetic implications:

those of Parkinson's disease; avoid dopamine inhibitors.

References:

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Updated: April  2025