Bulbospinal muscular atrophy (Kennedy disease) responsive to immunoglobulins?

A 61 year old man with facial diplegia, quadruparesis, tongue atrophy/fasciculations, bulbar speech, muscle weakness/wasting, hypotonia, tremor, dysdiadochokinesia, absent tendon reflexes, fasciculations, and gynecomastia, received immunoglobulins for suspected immune-neuropathy with limited benefit. After reconsideration, Kennedy disease was diagnosed upon 44 CAG repeats in . In conclusion, immunoglobulins exhibit limited benefit on immune-neuropathy in patients with coexisting KD.

-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. In contrast to -involving deletions, examples of pathogenic small coding variations are sparse in the literature and have been described only in singular cases with phenotypic abnormalities akin to those seen in the microdeletion syndrome.

Intrathecal baclofen for autonomic instability due to spinal cord injury.

Autonomic dysreflexia may occur following spinal cord injury above mid-thoracic level, commonly developing in the early posttraumatic period. Cardiovascular dysregulation is the most prominent feature, characterized by paroxysmal high blood pressure attacks, which are precipitated by distension of urinary bladder or bowels, skin wounds, or increased spastic muscle tone. Severe drops in blood pressure may occur in orthostatic conditions.

Ipsi- and contralateral exteroceptive EMG modulation in uni- and bilaterally activated thenar muscles.

Objective: The cutaneous silent period (CSP) is a spinal inhibitory reflex mediated by A-delta fibers. The exact underlying neural pathway, however, is unknown. This study was undertaken to investigate whether the neural circuitry mediating CSPs is wired unilaterally or whether there is evidence of influence from or upon the contralateral side.

Interside comparison of cutaneous silent periods in thenar muscles of healthy male and female subjects.

Objective: The cutaneous silent period (CSP) is a spinal inhibitory reflex mediated by A-delta fibers. To date, no data are available about normal interside differences.

Methods: Twenty healthy subjects underwent comparison of CSPs in the dominant and non-dominant hand.

Antibody response to myelin oligodendrocyte glycoprotein and myelin basic protein depend on familial background and are partially associated with human leukocyte antigen alleles in multiplex families and sporadic multiple sclerosis.

We investigated the association of the antibody response to myelin oligodendrocyte glycoprotein (MOG) and myelin basic protein (MBP) with human leukocyte antigen (HLA) class II alleles in 41 patients with sporadic multiple sclerosis (MS) and 12 multiplex MS families. We found significantly increased antibody response to MOG and MBP in MS patients without any difference to asymptomatic relatives. HLA DRB1*04 was associated with IgM reactivity to MOG in MS patients, and DRB1*15 and DRB5 with anti-MOG IgA among asymptomatic relatives.