The clinical and MRI correlate of ischaemia in the ventromedial midbrain: Claude's syndrome.

The eponymous syndrome of Claude is caused by a lesion of the red nucleus and adjacent third nerve nucleus, resulting in the combination of an ipsilateral oculomotor palsy and contralateral ataxia. The MRI correlate of this syndrome has only occasionally been described. We present three cases with MRI findings which confirm the association of this clinical syndrome with infarction of the ventromedial midbrain. The coexistence of hypertension and small vessel ischaemia in two cases suggests this type of infarct may arise as a result of small vessel disease.

Focal cranial nerve involvement in chronic inflammatory demyelinating polyneuropathy: clinical and MRI evidence of peripheral and central lesions.

Five cases of chronic inflammatory demyelinating polyneuropathy are described in which cranial nerve involvement accompanied a more generalized neuropathy. Clinical, electrophysiological, radiological and nerve biopsy findings are presented. Cranial nerve lesions in this form of polyneuropathy may be related to lesions of the peripheral nerves or of the central nervous system, when they may be accompanied by MRI evidence of more widespread CNS demyelinating lesions. In cases of early onset, the occurrence of focal cranial nerve lesions may serve to distinguish chronic inflammatory from inherited demyelinating polyneuropathies.

The clinical spectrum of peripheral neuropathies associated with benign monoclonal IgM, IgG and IgA paraproteinaemia. Comparative clinical, immunological and nerve biopsy findings.

Observations have been made on a consecutive series of 62 patients with peripheral neuropathy associated with benign monoclonal paraproteinaemia. The paraprotein class was IgM in 46 cases, IgG in 11 and IgA in 5. Although showing variations between patients, the clinical picture was similar for those with either IgM or IgG paraproteins, usually consisting of a late-onset, slowly progressive, distal sensorimotor demyelinating polyneuropathy, often with tremor and ataxia as prominent features. Tremor was slightly more common in patients with IgM paraproteins, in whom there was a male preponderance. The patients with both paraprotein classes were indistinguishable clinically and electrophysiologically from chronic idiopathic demyelinating polyneuropathy. In the 5 patients with an IgA paraprotein, there was a distal sensorimotor neuropathy in 4 which was demyelinating in 1. In 1 there was proximal demyelinating motor neuropathy. Immunoglobulin deposition on myelin was observed only in the patients with IgM paraproteinaemia, more commonly with a kappa light chain. No deposition of immunoglobulin in the endoneurium was seen. IgM deposits on the perineurium are a feature of normal nerve and were present in all cases. Widely spaced myelin was confined to cases with IgM paraproteins in which immunoglobulin deposition was detected on myelin. The response to treatment could not be assessed systematically but, in general, the patients with IgG and IgA paraproteins responded more satisfactorily (to corticosteroids, cytotoxic drugs, or plasma exchange) than did those with an IgM paraprotein.

Expressive language disorder after infarction of left lentiform nucleus.

A 53 year old bilingual woman presented with apraxia of speech and writing in English and German after ischaemic infarction of the left posterior lentiform nucleus. Detailed language assessment revealed impairments of articulation, verbal fluency, auditory repetition, interpretation of complex semantic relationships, formulation of definitions and verbal short-term memory. The case illustrates the role of the basal ganglia in speech planning, word retrieval and verbal short-term memory.

X-linked myotubular myopathy in a family with three adult survivors.

We describe a family with an extremely mild form of X-linked myotubular myopathy. Three affected males survived to adulthood with sufficient muscle strength to enable them to carry out normal daily activities. The mildness of the myopathy in this family is highlighted by the following: no neonatal or infant mortality resulting from the myopathy; one affected male who did not have neonatal asphyxia and had normal early motor milestones - this affected male was able to increase his muscle bulk and strength to normal by weightlifting; and a 55-year-old male who still lives an independent life. DNA sequencing identified a novel missense mutation - G469A (E157K) - in exon 7 of the MTM1 gene in this family. To our knowledge, this is the third X-linked myotubular myopathy family, with multiple adult survivors, to be reported in the literature.

Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study.

Central motor conduction to the small hand muscles was investigated in 59 patients with peroneal muscular atrophy and hereditary spastic paraplegia (HSP) by using transcranial magnetic brain stimulation. These comprised 20 patients with type I hereditary motor and sensory neuropathy (HMSN I), 15 with type II (HMSN II), 4 with HMSN I and 10 with HMSN II with associated pyramidal features, and 10 with the "pure" form of HSP. Central motor conduction was usually normal in HMSN I, HMSN II, and HSP. In HMSN I with pyramidal signs, central motor conduction time was greatly prolonged bilaterally. This result may reflect an associated involvement of the central motor pathways in these patients. In HMSN II with accompanying pyramidal features, 6 of the 10 patients had abnormal central motor conduction, although conduction times were only slightly prolonged, suggesting a different pathophysiological pattern.

A genetic study of idiopathic focal dystonias.

A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives with dystonia were identified in 6 families; 8 of these had symptoms such as clumsiness or tremor, but none were aware of any dystonia. A further 4 relatives, now decreased, were affected by history. Overall, 25% of index patients had relatives with dystonia. The results of segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause for focal dystonia. Segregation ratios were not significantly different from those ratios observed in generalized or segmental dystonia in the United Kingdom, and it is possible that a single autosomal dominant gene mutation is responsible for inherited dystonia in the majority of patients irrespective of distribution or severity.

Visual field loss associated with vigabatrin: pathological correlations.

Pathological changes are reported in the anterior visual pathways of a 41 year old man with complex partial seizures treated with vigabatrin who developed bilateral visual field constriction. There was peripheral retinal atrophy with loss of ganglion cells and loss of nerve fibres in the optic nerves, chiasm, and tracts. No evidence of intramyelinic oedema was seen. These findings suggest that the primary site of injury lies within the ganglion cells in the retina. The degree of atrophy seen would suggest that the visual field loss is irreversible.

Involvement of the central nervous system in chronic inflammatory demyelinating polyneuropathy: a clinical, electrophysiological and magnetic resonance imaging study.

In a consecutive series of 30 patients with chronic inflammatory demyelinating polyneuropathy (CIDP) minor clinical evidence of CNS involvement was found in five. Cranial magnetic resonance imaging (MRI) was performed in 28 and revealed abnormalities consistent with demyelination in nine patients aged less than 50 years and abnormalities in five aged 50 years or over. Measurements of central motor conduction time (CMCT) were obtained in 18 and showed unilateral or bilateral abnormalities in six. It is concluded that subclinical evidence of central nervous system (CNS) involvement is common, at least in patients with CIDP in the United Kingdom, but that clinically evident signs of CNS disease are infrequent. The association of a multiple sclerosis-like syndrome with CIDP is rare.

Botulinum toxin A versus fixed cast stretching for dynamic calf tightness in cerebral palsy.

OBJECTIVE: To compare botulinum toxin A injections with fixed plaster cast stretching in the management of cerebral palsied children with dynamic (i.e. non-fixed) calf tightness. METHODS: The settings were the Women's and Children's Hospital (WCH) and the Crippled Children's Association of South Australia (CCA), Adelaide, South Australia. Twenty children were selected by two paediatric rehabilitation specialists. A prospective, randomized, single-blind controlled study, was carried out, with 10 children in each arm. The clinicians were blinded as to the allocated interventions. The outcome measures for 6 months post intervention were clinical assessment, modified Ashworth Scale, Gross Motor Function Measure, 2 D-video ratings using a modified Physical Rating Scale and a global scoring scale and a parent satisfaction questionnaire. RESULTS AND CONCLUSION: Botulinum toxin A injections were of similar efficacy to serial fixed plaster casting in improving dynamic calf tightness in ambulant or partially ambulant children with cerebral palsy. The ease of outpatient administration, reduction of muscle tone and safety with botulinum toxin A was confirmed. Parents consistently favoured botulinum toxin A and highlighted the inconvenience of serial casting.

Evidence for locus heterogeneity in autosomal dominant torsion dystonia.

Idiopathic torsion dystonia (ITD) is most commonly an autosomal dominant disorder with reduced penetrance and variable expression. A locus on the distal long arm of chromosome 9 has been identified in one large non-Jewish and several Jewish families in the United States. Linkage analysis in a large Australian kindred with ITD, also containing two patients with Wilson's disease, excludes a locus for ITD in chromosome 9q34 or the region of chromosome 13 containing the Wilson disease gene. This study provides evidence for locus heterogeneity in autosomal dominant ITD and also gives additional information on gene order in chromosome 9q.

Primary torsion dystonia: the search for genes is not over.

A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an "intermediate dystonia" phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative efforts will be required to identify these, and additional genes, causing PTD.