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Table 1 Clinical characteristics of our G631R homozygous patients at baseline and end of follow-up

From: Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Case/gender/agea

Follow-up (months)

Neurological function

Retinopathy

Diabetes

Anemia

Baseline

EFU

Baseline

EFU

Baseline

EFU

Baseline

EFU

1/M/50

18

Orofacial dyskinesia, chorea, dystonia, dysarthria, gait disturbance

Died

No

NA

No

Yes

Yesb

Yes

2/M/56

76

Dysarthria, ataxia, gait disturbance, behavioral changes

Progressive speech and gait disturbance, wheelchair-bound, aspiration, cognitive decline and apathy

No

No

Yes

Yes

Yesb

No

3/M/61

70

Stress related tremor, slightly diminished facial expression

Development of gait disturbance with falls, mental slowing, behavioral changes

No

No

No

Yes

Yes

Yes

  1. End of follow-up data (EFU) of case 3 are based on inquiries. Other abbreviations: NA- not available
  2. aAge at baseline. bCase 1 and 2 initially presented with normal hemoglobin levels; previous treatment with phlebotomy monotherapy had resulted in mild anemia