Evaluation of peripherin in biofluids of patients with motor neuron diseases.

Peripherin (PRPH), a type III intermediate filament, assembles with neurofilaments in neurons of the peripheral nervous system, including lower motor neurons (LMN). To evaluate the role of PRPH in LMN degeneration, we assessed PRPH and neurofilament light chain (NfL) in cerebrospinal fluid (CSF) and serum of 91 patients with motor neuron diseases (MND) and 69 controls. Overall, we found PRPH to be more concentrated in serum than in CSF. Serum PRPH resulted significantly increased in MND patients but it was unrelated to CSF-NfL or survival in the amyotrophic lateral sclerosis (ALS) subset. PRPH might represent a marker of LMN involvement.

Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy.

OBJECTIVE: To test efficacy and tolerability of edaravone in patients with amyotrophic lateral sclerosis (ALS) originating from North-Eastern Italy. METHODS: We compared 3-month and 6-month changes of ALSFRS-R score, FVC value, and MRC score of 31 consecutive patients with ALS who were treated with edaravone to those of 50 historical ALS patients who were not treated with edaravone. RESULTS: No significant difference for any functional measures was found between the two groups at each time point as compared to baseline. In treated patients, we also observed creatinine values to significantly decrease at 3 and 6 months (p = 0.0078 and 0.030, respectively) and ALSAQ5 score to significantly increase (i.e. worse quality of life) at 3 and 6 months (p = 0.0005 and 0.0078, respectively). Yet, we observed an overall safety of the medication over the 6-month period of observation. CONCLUSIONS: Our retrospective study suggests no benefit of edaravone on ALS in populations of Caucasian ancestry.

Epilepsy with auditory features: Long-term outcome and predictors of terminal remission.

OBJECTIVE: To assess the long-term outcome of epilepsy with auditory features (EAF) and to identify the clinical predictors for prognosis. METHODS: The study involved consecutive EAF patients with a follow-up of ≥5 years. Terminal remission (TR) was defined as a period of ≥5 consecutive years of seizure freedom at the last follow-up. We used Kaplan-Meier estimate to calculate the cumulative time-dependent probability of conversion to TR. Log-rank test and multivariate Cox regression analyses were performed to study the association between time to TR and prognostic determinants. RESULTS: We included 123 EAF patients (male/female = 58/65) with a median follow-up of 11 years (1626.9 person-years). Most were sporadic cases (68.3%), whereas 31.7% reported a family history of epilepsy. At last assessment, 42 patients had achieved TR (34.1%). Of the remaining 81 cases with no TR (65.9%), 37% had been in remission for 1-4 years and 62.9% still had seizures within the past year. The cumulative rates of TR were 26.6%, 35.7%, and 51.6% at 10, 20, and 30 years from inclusion. On multivariate analysis, age at onset > 10 years (hazard ratio [HR] = 3.2, P = .028), auditory aura characterized by distortions only versus simple/complex hallucinations (HR = 2.9, P = .041), and unremarkable scalp electroencephalogram (EEG) versus EEG with focal epileptiform activity (HR = 3.5, P = .041) were associated with TR. SIGNIFICANCE: Our data show a wide prognostic spectrum of EAF, ranging from mild forms with spontaneous remission, to severely refractory epilepsy addressed to surgery. The outcome, less favorable than expected from previous studies, appears to be primarily a function of 3 prognostic negative risk factors: age at onset < 10 years, auditory aura characterized by complex auditory hallucinations, and focal epileptiform abnormalities on scalp EEG. These predictors, easy to collect even at the first visit, may inform both clinicians and patients about the long-term prognosis and aid patient management.

Acute simultaneous development of brain tumour-like lesion and demyelinating polyneuropathy in a patient with chronic relapsing myelitis.

Combined central and peripheral demyelination (CCPD) is a rare chronic inflammatory disorder of the nervous system. We describe the case of a patient with a history of recurrent myelitis that acutely and simultaneously developed a brain tumour-like lesion and a sensitive-motor demyelinating polyneuropathy. The diagnosis of CCPD was supported by a detailed diagnostic workup. Up to date, no similar cases have been reported in the literature.