Cerebral diseases in which excess iron accumulation is found on MRI scan
| Disease title | Inheritance pattern | Age of presentation | Clinical features* | Intellect | Radiological features† | Cerebellar features‡ | Gene§ | Chromosomal location |
|---|---|---|---|---|---|---|---|---|
| Disease title and OMIM number, as described in McKusick’s On-line Mendelian Inheritance in Man (OMIM). | ||||||||
| PKAN/PANK2 and PKAN/not PANK2 is pantothenate kinaseassociated neuropathy with or without a pantothenate kinase 2 gene mutation. | ||||||||
| *Clinical features, lists the presenting and major neurological features only. | ||||||||
| †Radiological features lists the (consistent and major) abnormal findings reported on cerebral T2 MRI brain scans. Caudate, dentate, and red refer to the caudate nucleus, dentate nucleus, and red nucleus respectively. “Eye of the tiger” sign is of decreased signal intensity in T2 weighted images, compatible with iron deposits, and of a small area of hyper intensity in its internal segment (illustrated in reference 6). | ||||||||
| ‡Cerebellar features documents whether clinical findings have been reported followed by cerebellar MRI brain scan findings. Normal means that neither clinical cerebellar signs nor abnormal cerebellar scan findings are present. | ||||||||
| §Gene abbreviations used, CP is ceruloplasmin, FTL is ferritin light chain, PANK2 is pantothenate kinase 2 and ? no identified gene. | ||||||||
| Freidriech ataxia was not included in the table as there is no evidence on MRI brain scan of excess pathological iron deposition in the central nervous system. | ||||||||
| Aceruloplasminaemia MIM 604290 | Recessive | >30 y | Dementia, ataxia, chorea, dystonia | Declines | Caudate dentate, putamen, red, thalamus, on T1 + T2 | Yes, normal | CP | 3q23-4 |
| Neuroferritinopathy MIM 606159 | Dominant | 40–55 y | Choreoathetosis, dystonia, spasticity, rigidity | Normal | Caudate, dentate, globus pallidus, putamen, substantia nigra | Normal | FTL | 19q13.3-4 |
| PKAN/PANK2 MIM 234200 | Recessive | 5–20 y | Rigidity, choreoathetosis, dystonia, | Often declines | “Eye of the tiger” and substantia nigra | Normal | PANK2 | 20p13 |
| PKAN/PANK2 Atypical and HARP MIM 607236 | Recessive | >15 y | Diverse extrapyramidal symptoms | Often declines | “Eye of the tiger” | Normal | PANK2 | 20p13 |
| PKAN/not PANK2 | Probably recessive | >15 y | Diverse extrapyramidal symptoms | Often declines | Dentate, globus pallidus, red | Often, atrophy | ? | ? |
| Karak syndrome | Recessive or X linked | 6 y | Ataxia, chorea, dystonia | Declines | “Eye of the tiger” and substantia nigra | Yes, atrophy | ? | ? |