In order to further clarify the pathogenesis and clinical significance of MRI white matter abnormalities in treated hyperphenylalaninaemia (HPA), ten patients (seven type I HPA, two type II and one type III) underwent T2 relaxometry (n = 8) and/or 1H spectroscopy (n = 7) in addition to conventional MR spin-echo imaging at 1.5 T. Two patients with severe MRI abnormalities had repeat examinations during and after a 6- to 8-month period of strict diet control. The clinical evaluation included a detailed neurological examination. In nine out of ten patients visual evoked potentials (VEP) were obtained parallel to the MR examination. MR imaging demonstrated typical symmetrical areas of prolonged T2 relaxation time predominantly in the posterior periventricular white matter in all but one of type I and II patients. There was no consistent relationship between MRI findings and time of diagnosis/initiation of therapy, IQ or visual evoked potential changes. MRI abnormalities tended to be more severe in patients with poor dietary control and high current plasma phenylalanine levels, whereas a normal MRI was found only in patients with plasma phenylalanine levels continuously below 0.36 mmol/l. There was marked regression of MRI abnormalities already after 3 months of strict diet control. T2 relaxometry showed a bi-exponential behaviour of T2 in the affected white matter, with a slow component of about 200-450 ms, indicating an increase in free (extracellular) water. 1H spectroscopy revealed no signs of severe neuronal damage. We conclude, that the observed white matter changes in treated HPA probably represent reversible structural myelin changes rather than permanent demyelination.

Giant axonal neuropathy (GAN) is an autosomal recessive neurologic disorder clinically characterized by a severe polyneuropathy, CNS abnormalities, and characteristic tightly curled hair. Recently, mutations in the gigaxonin gene have been identified as the underlying genetic defect. The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.

The use of complementary and alternative medicine (CAM) is increasing worldwide, especially by patients with chronic diseases. To date, no data are available about utilization and perceived effectiveness of CAM in patients with dystonia. A questionnaire survey on utilization and costs of CAM was completed by 180 members of the German Dystonia Society, a patient advocate group. In total, 131 dystonia patients (73%) were current or former users of CAM, 55 patients used CAM in addition to botulinum toxin A injections, and 86 patients had experience with three or more CAM methods. The options used most widely were acupuncture (56%), relaxation techniques (44%), homeopathy (27%), and massages (26%). Among users of specific CAM methods, breathing therapy, Feldenkrais, massages, and relaxation techniques were perceived as most effective. On average, patients spent 1,513 Euro on CAM without reimbursement. There was no correlation between costs and perceived effectiveness of different methods. In line with other studies on chronically ill patients, our results show that dystonia patients frequently utilize CAM methods, often in addition to conventional treatment. There is a growing need to evaluate scientifically the effect of CAM methods on symptom severity and quality of life in dystonia, to prevent utilization of costly and ineffective CAM treatments.

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Eight adult, untreated patients with classical phenylketonuria received L-dopa and a decarboxylase inhibitor for 2 weeks. No effect of L-dopa therapy on choice reaction time tasks, sustained attention, frontal lobal function as well as latencies of visual evoked potentials was found. The results raise the question if adult patients with phenylketonuria really suffer from functional dopamine deficiency.