Dusko Kozic

Dystonia in Wilson's disease.

The frequency and type of dystonic movements, as well as brain abnormalities, as depicted with magnetic resonance imaging (MRI), which might correlate with dystonia, were studied in 27 consecutive patients with a neurologic form of Wilsons disease (WD) and optimized treatment. Dystonia was found in 10 patients (37%), being generalized in half of them, while two patients had segmental, two patients multifocal dystonia, and one patient bilateral foot dystonia. Dystonia was a presenting sign in four patients and developed later in the course of the disease in six patients, despite the administered therapy for WD. Putamen was the only structure significantly more frequently lesioned in dystonic (80%) in comparison to WD patients without dystonia (24%), suggesting a relation between abnormalities in this brain region and dystonic movements in WD.

Malignant Peripheral Nerve Sheath Tumor of the Oculomotor Nerve

We present the short-term follow-up magnetic resonance (MR) studies and 1H-MR spectroscopy in a child with malignant peripheral nerve sheath tumor of the oculomotor nerve associated with other less aggressive cranial nerve schwannomas. The tumor revealed perineural extension and diffuse nerve involvement besides rapid growth. 1H-MR spectroscopy was helpful in excluding an intra-axial neoplasm with exophytic growth, mainly due to the absence of creatine and N-acetyl aspartate peaks, and markedly elevated choline peak.

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant

The early presentation of autonomic dysfunctions at the disease onset has been considered the mandatory clinical feature in adult-onset autosomal dominant leukodystrophy, which is a rarely recognised leukodystrophy caused by duplication of the lamin B1 gene. We report the first family with adult-onset autosomal dominant leukodystrophy and lamin B1 duplication, without the distinguishing early-appearing autonomic dysfunctions. Subjects from three consecutive generations of a multi-generational Serbian family affected by adult-onset autosomal dominant leukodystrophy underwent clinical, biochemical, neurophysiological, neuroradiological, and genetic studies. The patients atypically exhibited late autonomic dysfunctions commencing at the disease end-stages in some. Genetic findings of lamin B1 duplication verified adult-onset autosomal dominant leukodystrophy, which was supported also by neuroimaging studies. Exclusively, proton magnetic spectroscopy of the brain revealed a possibility of neuro-axonal damage in the white matter lesions, while magnetic resonance imaging of the spinal cord excluded spinal myelin affection as a required finding in this leukodystrophy. The detection of lamin B1 duplication, even when autonomic dysfunctions do not precede the other symptoms of the disease, proves for the first time that lamin B1-duplicated adult-onset autosomal dominant leukodystrophy may have a phenotypic variant with delayed autonomic dysfunctions. Prior to this report, such a phenotype had been speculated to represent an entity different from lamin B1-duplicated leukodystrophy. Hereby we confirm the underlying role of lamin B1 duplication, regardless of the autonomic malfunction onset in this disorder. It is the only report on adult-onset autosomal dominant leukodystrophy from Southeastern Europe.

Hippocampal metabolic dysfunction in juvenile myoclonic epilepsy: 3D multivoxel spectroscopy study

PURPOSE To investigate the metabolic differences in hippocampi of patients with juvenile myoclonic epilepsy (JME) and healthy controls using magnetic resonance spectroscopy (MRS). METHODS A 3D multivoxel SE 135 MRS study on 1.5 T scanner of both hippocampi was performed in 17 patients with JME and normal brain MRI and in 19 age and sex matched controls. Three dominant signals were measured: Choline (Cho), Creatine (tCr) and N-Acetylaspartate (NAA) and expressed as ratios of Cho:tCr, NAA:tCr, NAA:Cho and NAA:(Cho+tCr). Metabolite ratios in head, body and tail of each hippocampus in the JME group of patients were compared with ratios from corresponding structures in the control group. RESULTS We found a significant difference in metabolite ratios of both hippocampi between the JME and the control groups. We detected significant differences of Cho:tCr in the head, NAA:tCr in the head, body and tail, NAA:Cho and NAA:(Cho+tCr) in the body and tail of the left hippocampus, and NAA:Cho and NAA:(Cho+tCr) in the body and tail of the right hippocampus. DISCUSSION Although not previously recognized as a part of the epileptogenic network, our results suggest that the hippocampus, well recognized as a key player in focal epilepsies, may have a certain role in the pathogenesis of JME.

Changes of functional status and volume of triceps brachii measured by magnetic resonance imaging after maximal resistance training.

To evaluate the effect of 6‐week self‐perceived maximal resistance training on muscle volume utilizing magnetic resonance imaging and maximal, average, and endurance strength of the elbow extensors and to assess the relationship between muscle strength and volume before and after the training.

MR and MRS Characteristics of Intraventricular Meningioma

Meningiomas are frequent intracranial, non‐glial tumors of adults. We present the unusual left lateral ventricular localization of meningioma in a 51‐year‐old man. The magnetic resonance (MR) images showed well demarcated, large mass of the atrium of the left lateral ventricle with transependymal extension into the left temporal lobe. MR spectroscopy revealed the presence of “choline only” spectrum, typical for extra axial neoplasms. The mass was completely resected. The diagnosis of transitional type intraventricular meningioma, with psammoma bodies, histologic grade I was made. Progesterone and estrogen receptors were negative.

Morpho-functional response of the elbow extensor muscles to twelve-week self-perceived maximal resistance training.

The aim of this study was to determine morphological and functional changes of the elbow extensor muscles in response to a 12‐week self‐perceived maximal resistance training (MRT). Twenty‐one healthy sedentary young men were engaged in elbow extensor training using isoacceleration dynamometry for 12 weeks with a frequency of five sessions per week (five sets of ten maximal voluntarily contractions, 1‐min rest period between each set). Prior to, at 6 weeks and after the training, a series of cross‐sectional magnetic resonance images of the upper arm were obtained and muscle volumes were calculated. Maximal and endurance strength increased (P<0·01) by 15% and 45% at 6 weeks, and by 29% and 70% after 12 weeks compared with baseline values, while fatigue rate of the elbow extensors decreased by 67%. The volume of triceps brachii increased in both arms (P<0·01) by 4% at 6 weeks, and by 8% after 12 weeks compared with baseline values (right arm – from 487·4 ± 72·8 cm3 to 505·8 ± 72·3 cm3 after 6 weeks and 525·3 ± 73·7 cm3 after 12 weeks; left arm – from 475·3 ± 79·1 cm3 to 493·2 ± 72·7 cm3 after 6 weeks and 511·3 ± 77·0 cm3 after 12 weeks). A high correlation was found between maximal muscle strength and muscle volume prior (r2 = 0·62) and after (r2 = 0·69) the training (P≤0·05). A self‐perceived MRT resulted in an increase in maximal and endurance strength. Morphological adaptation changes of triceps brachii as a result of 12‐week specific strength training can explain only up to 26% of strength gain.

HIV-associated neurodegeneration and neuroimmunity: multivoxel MR spectroscopy study in drug-naïve and treated patients

AbstractObjectivesThe aim of this study was to test neurobiochemical changes in normal appearing brain tissue in HIV+ patients receiving and not receiving combined antiretroviral therapy (cART) and healthy controls, using multivoxel MR spectroscopy (mvMRS).MethodsWe performed long- and short-echo 3D mvMRS in 110 neuroasymptomatic subjects (32 HIV+ subjects on cART, 28 HIV+ therapy-naïve subjects and 50 healthy controls) on a 3T MR scanner, targeting frontal and parietal supracallosal subcortical and deep white matter and cingulate gyrus (NAA/Cr, Cho/Cr and mI/Cr ratios were analysed). The statistical value was set at p < 0.05.ResultsConsidering differences between HIV-infected and healthy subjects, there was a significant decrease in the NAA/Cr ratio in HIV+ subjects in all observed locations, an increase in mI/Cr levels in the anterior cingulate gyrus (ACG), and no significant differences in Cho/Cr ratios, except in ACG, where the increase showed trending towards significance in HIV+ patients. There were no significant differences between HIV+ patients on and without cART in all three ratios.ConclusionNeuronal loss and dysfunction affects the whole brain volume in HIV-infected patients. Unfortunately, cART appears to be ineffective in halting accelerated neurodegenerative process induced by HIV but is partially effective in preventing glial proliferation.Key Points• This is the first multivoxel human brain 3T MRS study in HIV. • All observed areas of the brain are affected by neurodegenerative process. • Cingulate gyrus and subcortical white matter are most vulnerable to HIV-induced neurodegeneration. • cART is effective in control of inflammation but ineffective in preventing neurodegeneration.

Perineural tumor spread — Interconnection between spinal and cranial nerves

The secondary neoplastic involvement of the cervical plexus in patients with head and neck malignancies is extremely rare. MR examination of the neck revealed the diffuse neoplastic infiltration of the right C2 root, in a 57-year-old patient with several months long pain in the right ear region and a history of the tongue squamous cell carcinoma. Associated perineural tumor spread and consequent distal involvement of great auricular nerve and vagus nerve were evident. Best of our knowledge, this is the first reported involvement of the cervical plexus in patients with head and neck cancers, associated with the clearly documented interconnection between the cervical plexus and cranial nerves via great auricular nerve.

Magnetic Resonance Imaging Morphometry of the Midbrain in Patients With Wilson Disease

In this study, the focus is on midbrain magnetic resonance imaging morphometric measures (transverse diameter of the midbrain peduncle [Tp], transverse diameter of the tegmentum, anteroposterior diameter of the midbrain, interpeduncular distance [IPD], and interpeduncular angle [IPA]) in a group of 47 consecutive patients with neurologic (37 patients) and hepatic (10 patients) forms of Wilson disease (WD). Morphometric measures were significantly different between the group of patients with WD and healthy controls (51 subjects) as well as patients with Parkinson disease (15 patients) and multiple sclerosis (15 patients). Among the studied variables, IPA, Tp, and IPD were particularly useful in differentiating patients from healthy subjects (probability reaching 93%).