Table 2.

Clinical Findings in Individuals with Neuroferritinopathy

Clinical FindingNumberPercent
Presenting
phenotype
Chorea20/4050%
Dystonia17/4042.5%
Parkinsonism3/407.5%
Asymmetry25/4062.5%
Speech
and
swallowing
Dysarthria31/4077.5%
Dysphonia19/4047.5%
Orolingual dyskinesia26/4065%
Dysphagia16/4040%
EyesAbnormal EOM3/407.5%
Abnormal fundi0/400%
MotorBradykinesia14/4035.5%
Tremor0/400%
Dystonia33/4082.5%
Chorea28/4070%
Spasticity0/400%
Normal strength in
nondystonic limbs
40/40100%
Increased tendon reflexes7/4017.5%
Babinski reflex0/400%
Ataxia0/400%

In 40 individuals with the FTL c.460dupA mutation [Chinnery et al 2007]

From: Neuroferritinopathy

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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