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Aceruloplasminemia is an autosomal recessive disorder of iron metabolism resulting from mutations of the ceruloplasmin gene. To better define the neurological phenotype of aceruloplasminemia we reviewed reports of published cases and sought details of unpublished ones. We identified 32 published reports and 1 unpublished case. The age at diagnosis ranged from 16 to 71 years with a mean of 51. For the 28 homozygous cases the most common presentation was with cognitive impairment (12/28, 42%) accompanied by craniofacial dyskinesia (8/28, 28%), cerebellar ataxia (13/28, 46%) and retinal degeneration (21/28, 75%). Four heterozygotes presented with cerebellar signs or tremor, whilst 1 had chorea-athetosis. There were no genotype-phenotype associations, but homozygotes tended to have severer disease.

Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected. Precisely defining specific categories is a challenge because of overlapping clinical phenotypes, making it difficult to decide which of the many known causative genes to screen in individual cases. In this study we define the distinguishing magnetic resonance imaging findings in myotilin myopathy by studying 8 genealogically unrelated cases due to the same point mutation in TTID. Proximally, the vastii, biceps femoris and semimembranosus were involved with sparing of gracilis and sartorius. Distally, soleus, gastrocnemius, tibialis anterior, extensor hallicus and extensor digitorum were involved. This pattern contrasts with other distal myopathies and provides further support for the role of imaging in the clinical investigation of muscle disease.

cause movement disorders. CT brain and chest radiograph were normal. It was decided not to perform MRI brain as it was felt that the probability of an ischaemic lesion not visualised by CT was very low. Routine bloods demonstrated no abnormalities in the full blood count, liver function or renal function. The patient had been noted to be hyponatraemic for at least 2 years (around 125–130 mmol/l), but her plasma osmolarity was normal and there had been no recent changes in her plasma sodium levels. ESR was 8 mm/h. Thyroid function, blood glucose, calcium, magnesium, phosphate, serum caeruloplasmin, vitamin D and parathyroid hormone levels were all normal. The anti-streptolysin O titre was normal ( ! 200 U/ml). Anti-nuclear antibody (titre 1: 160) and anti-cardiolipin antibodies were positive, but the patient did not meet the American College of Rheumatology criteria for SLE or anti-phospholipid antibody syndrome and was anti-dsDNA negative with normal serum complement. Anti-basal ganglia antibodies were negative. Given the late age of onset and lack of family history it was decided not to perform genetic testing for Huntington’s disease. CA-125 was elevated but pelvic ultrasound and CT abdomen demonstrated no ovarian or other malignancy. The patient was discharged 12 days after admission with no further occurrence of chorea.