Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2010
New aspects on patients affected by dysferlin deficient muscular dystrophy.
Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data. The diagnosis was established by reduction of dysferlin in the muscle biopsy and subsequent mutational analysis of the dysferlin gene. ⋯ Independent of the initial mode of presentation, in our cohort of patients the gastrocnemius muscle was the most severely affected muscle leading to an inability to stand on tiptoes, and lower limbs were affected more severely than upper limbs. As previous anecdotal evidence on patients affected by dysferlinopathy suggests good muscle prowess before onset of symptoms, we also investigated pre-symptomatic fitness levels of the patients. Fifty-three per cent of the patients were very active and sporty before the onset of symptoms which makes the clinical course of dysferlinopathy unusual within the different forms of muscular dystrophy and provides a challenge to understanding the underlying pathomechanisms in this disease.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2010
Case ReportsMicrovascular decompression of the trigeminal nerve in the treatment of SUNCT and SUNA.
Medical management of short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) syndrome and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA) is often unsatisfactory. ⋯ Medically intractable SUNCT and SUNA subjects with a demonstrable aberrant arterial loop impinging on the trigeminal nerve on neuroimaging may benefit from microvascular decompression.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Case ReportsA wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6). ⋯ This novel CACNA1A mutation adds to the number of mutations associated with a heterogeneous clinical picture in family members. This mutation might affect the interaction between the intracellular loops and the beta subunit, leading to a relatively rapid cell death. In order to explain the wide phenotypic variability observed in this family, it is hypothesised that additional genetic and environmental (hormonal) factors play a role in the pathophysiology of the disease.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Long-term effects of vestibular compensation on balance control and sensory organisation after unilateral deafferentation due to vestibular schwannoma surgery.
The time-course of central adaptive mechanisms after vestibular schwannoma surgical removal allows, 3 months after surgery (middle term), a satisfactory recovery of balance control. However, the long-term evolution of postural control beyond the end of usual medical follow-up remains unknown. ⋯ Postural control performances improved 3 months after surgery compared with before surgery; they continued to improve at 6 and 12 months after surgery, especially in conditions highly soliciting vestibular information. In the long term, strategies based on sensorimotor and/or behavioural substitution seem to be reinforced and fine-tuned, particularly in complex postural situations, for which only vestibular information is reliable to control balance.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2010
Case ReportsThe enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.
Two families with autosomal dominant limb girdle muscular dystrophy (LGMD) have previously been linked to a locus on chromosome 7q36 10 years ago. The locus has been termed both LGMD1D and 1E, but because of lack of additional families to narrow down the linked region of interest, this disease has remained elusive. ⋯ Advancement towards the causative gene defect in the 7q36 linked disease needs new additional families to narrow the region of interest. The phenotype in the previously linked families has not been reported in full detail, which may be one reason for the shortage of additional families. A comprehensive clinical and morphological phenotype of chromosome 7q36 linked autosomal dominant LGMD with a restricted and updated 6.4 Mb sized haplotype is reported here.