Motor nerve biopsy: clinical usefulness and histopathological criteria.

Early differential diagnosis of motor neuropathies (MN) and lower motor neuron diseases (LMND) is important, as prognosis and therapeutic approaches are different. We evaluated the diagnostic contribution of the biopsy of the motor branch of the obturator nerve and gracilis muscle in 21 consecutive patients in which, after proper clinical and neurophysiological studies, the differential diagnosis was still open. At baseline, motor biopsy was performed; diagnostic confirmation was obtained by 2-year clinical follow-up.

Differential expression of ceruloplasmin isoforms in the cerebrospinal fluid of amyotrophic lateral sclerosis patients.

Amyotrophic lateral sclerosis (ALS) a fatal degenerative disease that selectively affects motor neurons, likely results from a complex interplay among oxidative injury, excitotoxic stimulation, protein aggregation and genetic factors. Ceruloplasmin (Cp) protein is a ferroxidase that oxidizes toxic ferrous iron to its nontoxic ferric form, protecting the central nervous system (CNS) from iron deposition. Cp is thus considered as one of the main systems dedicated to the protection of the CNS from oxidative stress damage.

Auditory event-related potentials in non-demented patients with sporadic amyotrophic lateral sclerosis.

Objective: To investigate the presence of sub-clinical cognitive dysfunction in non-demented patients with amyotrophic lateral sclerosis (ALS) using auditory event-related potentials (ERPs).

Methods: Ten subjects with ALS and 10 age- and sex-matched controls performed a passive three-stimulus paradigm with standard (80%), deviant (16%) and distracter (4%) stimuli. To quantify the mismatch component, the evoked response to the standard tones was subtracted from the corresponding deviant stimuli and novel response; the P3a component was obtained by subtracting the response to the standard tone from that to the novel stimuli.

Pigment epithelium-derived factor is differentially expressed in peripheral neuropathies.

Peripheral neuropathies are characterized by asymmetrical slowly progressive weakness with no upper motor neuron signs, and can occur either with or without pain. Due to poor knowledge of the disease mechanisms, available pain treatment is very limited. Because of the difficulties and invasiveness involved when performing direct analysis on peripheral and CNS, pathological markers can be searched for in the cerebrospinal fluid (CSF) as an alternative.

Case of symptomatic propriospinal myoclonus evolving toward acute "myoclonic status".

Propriospinal myoclonus is a rare motor disorder consisting of involuntary spinal-generated muscular jerks. Here, we report a severe and uncommon case of propriospinal myoclonus that appeared after a vertebral fracture of T11. In this patient, the polysomnographic investigation showed continuing focal myoclonic activity in axial muscles during stable sleep and an acute progression into a myoclonic "status" associated with respiratory failure and loss of consciousness.

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot-Marie-Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy.

Muscle fibre type and obstructive sleep apnea.

Muscular pharyngeal structural changes, as fibre type disproportion, have been described in patients affected by Obstructive Sleep Apnea (OSA) and in an animal experimental OSA model. The unsolved question is whether these muscular abnormalities are either secondary to a compensatory increased activity or due to a constitutionally determined reduction of slow-alpha motor neurons. In the present study Medium Pharyngeal Constrictor Muscles (MPCM) of OSA (n = 13) and non-OSA (n = 9) patients have been morphologically evaluated.

Central nervous system superficial siderosis, headache, and epilepsy.

Almost 95 cases of superficial siderosis of the central nervous system have been reported in the literature. These patients showed a clinical syndrome characterized by ataxia, deafness, pyramidal system involvement, and mental deterioration with xanthochromic cerebrospinal fluid and neuroradiological findings of hemosiderin deposits. About 30% of the patients had headache as an accompanying symptom.

Amyloid neuropathy simulating lower motor neuron disease.

We report a 57-year-old man with progressive symmetric weakness and fasciculation affecting the legs. Electromyography revealed fibrillations and neurogenic motor unit potentials in the leg muscles. Biopsy of a motor branch of the obturator nerve revealed axonal degeneration, loss of myelinated nerve fibers, and amyloidosis with deposits of lambda light chains.