Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S.

Limb-girdle muscular dystrophy 2S (LGMD2S) is an autosomal recessive condition due to mutations in the TRAPPC11 gene. It is recently described with only 9 prior reported individuals. In addition to the muscular dystrophy, some affected individuals have small head size, global developmental delay, seizures, cataracts, and liver problems.

Elderly onset of weakness in facioscapulohumeral muscular dystrophy.

A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive.

External neurolysis may result in early return of function in some muscle groups following brachial plexus surgery.

A retrospective chart review, of those individuals seen and operated on by the Multidisciplinary Brachial Plexus Clinic team at the University of Kentucky Chandler Medical Center, was undertaken to determine those individuals who had early return-of-function following surgery for BPI. Seven patients met our criteria, with four of them having substantial improvement of two or more points gained on the MRC rating scale, in one or more muscle groups within six to eight weeks after surgery. Those patients with return-of-function earlier than expected for axonal regrowth from nerve transfer or grafting, had evidence for continuity but no significant reinnervation before surgery in the muscle groups that improved.

Sporadic Creutzfeldt-Jakob disease presenting as nonconvulsive status epilepticus case report and review of the literature.

Creutzfeldt-Jakob disease (CJD) is the most common transmissible human spongiform encephalopathy. Seizures and status epilepticus (SE) are an uncommon finding in CJD. We report a 64-year-old woman with rapid cognitive decline who had electroencephalographic (EEG) changes suggestive of nonconvulsive status epilepticus (NCSE).

Melatonin-analog, beta-methyl-6-chloromelatonin, supplementation in spinal cord injury.

Spinal cord injury (SCI) is a devastating condition. Melatonin supplementation has been shown to lessen SCI, but its use has been limited by its side effect profile. In this work, rats underwent a moderate-to-severe contussional SCI with either placebo or beta-methyl-6-chloromelatonin, 10mg/kg or 100mg/kg supplementation.

Proximal sciatic nerve intraneural ganglion cyst.

Intraneural ganglion cysts are nonneoplastic, mucinous cysts within the epineurium of peripheral nerves which usually involve the peroneal nerve at the knee. A 37-year-old female presented with progressive left buttock and posterior thigh pain. Magnetic resonance imaging revealed a sciatic nerve mass at the sacral notch which was subsequently revealed to be an intraneural ganglion cyst.

Exacerbation of spinal cord injury due to static compression occurring early after onset.

Object: The authors used a rat model to assess spinal cord compression following an incomplete spinal cord injury (SCI).

Methods: Incomplete SCI was created in the thoracic spinal cord in a novel application of a rodent spinal cord compression model. A moderate impaction force was applied instantaneously to the spinal cord and was followed by 0 seconds, 10 seconds, 30 seconds, or 5 minutes of continued compression (termed "dwell").

Coxsackie B meningoencephalitis in a patient with acquired immunodeficiency syndrome and a multiple sclerosis-like illness.

Both Coxsackie infection and multiple sclerosis (MS) are rare in human immunodeficiency virus (HIV) infection. We report a 35-year-old woman with known HIV infection of 12 years' duration and a clinical illness of 4 years' duration consistent with MS. The latter was characterized by optic neuritis, bilateral abducens palsies, recurrent Bell's palsy, hemiparesis, and ataxia coupled with white matter abnormalities on magnetic resonance imaging (MRI).

Myasthenia gravis associated with etanercept therapy.

Etanercept is an antagonist of tumor necrosis factor alpha that was developed to treat rheumatoid arthritis. In this report we present a patient who developed myasthenia gravis while taking etanercept and had resolution of symptoms after stopping it. This is the first report of this potential side effect and is of additional interest, because etanercept has been proposed as a treatment for myasthenia gravis.

Gender differences in spinal cord injury are not estrogen-dependent.

Recent attention has been given to gender differences in neurotrauma, and the anecdotal suggestion is that females have better outcomes than males, suggesting that circulating levels of estrogen (E(2)) may be neuroprotective. In order to address this issue, both young adult male and ovariectomized female rats were subjected to a T10 spinal cord injury (SCI), and E2 levels were maintained at chronic, constant circulating levels. Animals were clinically evaluated for locomotor changes using the Basso-Beattie-Bresnahan (BBB) scoring system.

Effects of progesterone on experimental spinal cord injury.

Progesterone has been proposed to be protective to the central nervous system following injury. This study assessed progesterone supplementation in the setting of contusional spinal cord injury in male and female rats. Short-term (5 days of either 4 or 8 mg/kg progesterone) and long-term (14 days of either 8 or 16 mg/kg progesterone) therapy failed to show any significant alteration in locomotor functioning and injury morphometrics after 21 days.

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

Potassium channel mutations have been described in episodic neurological diseases. We report that K+ channel mutations cause disease phenotypes with neurodevelopmental and neurodegenerative features. In a Filipino adult-onset ataxia pedigree, the causative gene maps to 19q13, overlapping the SCA13 disease locus described in a French pedigree with childhood-onset ataxia and cognitive delay.

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

Caveolin3 (CAV3) is a protein associated with dystrophin, dystrophin-associated glycoproteins, and dysferlin. Mutations in the CAV3 gene result in certain autosomal-dominant inherited diseases, namely, rippling muscle disease (RMD), limb-girdle muscular dystrophy type 1C (LGMD1C), distal myopathy, and hyperCKemia. In this report we show that a previously reported family with RMD has a mutation in the CAV3 gene.

Traumatic brain injury increases TGF beta RII expression on endothelial cells.

Transforming growth factor beta (TGFbeta) modulates a variety of growth related functions following traumatic injury. The cellular response to TGFbeta is predominantly mediated through TGFbeta receptor I (TGFbetaRI) and receptor II (TGFbetaRII) on the cell surface and SMAD proteins intracellularly. We investigated the expression of TGFbeta receptors in the acute and chronic phases of a traumatic cerebral injury (TCI) by immunohistochemistry and in cultures of murine brain microvascular endothelial (EN) cells using cytofluorimetry.

Resolution of chronic inflammatory demyelinating polyneuropathy-associated central nervous system lesions after treatment with intravenous immunoglobulin.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a condition affecting the peripheral nervous system; however, it has been associated with central nervous system (CNS) involvement. The natural history and response to treatment of these CNS lesions are unknown. We report the case of a patient with CIDP which met research criteria for definite CIDP and associated symptomatic CNS lesions.

Unilateral calf hypertrophy seen in lumbosacral stenosis: case report and review of the literature.

Study Design: A case report of a patient with neurogenic unilateral calf hypertrophy and review of the literature are reported.

Objectives: To provide further evidence that S1 radiculopathy is predisposed to develop neurogenic muscle hypertrophy.

Summary Of Background Data: Calf hypertrophy, specifically hypertrophy of the gastrocnemius muscle, is a rare but recognized presentation of S1 and less commonly L5 radiculopathies.