Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.

Variants in , encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in mitochondrial diseases (MDs). Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants .

Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut Syndrome.

Purified cannabidiol (CBD) was administered to highly refractory patients with Dravet (DS) or Lennox-Gastaut (LGS) syndromes in an ongoing expanded access program (EAP). Herein, we report interim results on CBD safety and seizure outcomes in patients treated for a 12-month period. Thirty centers were enrolled from December 2018 to December 2019 within the open-label prospective EAP up to a maximum of 25 mg/kg per day.

Is Covid-19 lockdown related to an increase of accesses for seizures in the emergency department? An observational analysis of a paediatric cohort in the Southern Italy.

Background: The World Health Organization (WHO) declared a global pandemic of Covid-19 on 11 March 2020. The lockdown caused a lifestyle changes: an increase in the use of mobile media devices (MMDs), sleep and psychiatric disorders, incorrect habits regarding food and physical activities. We investigate prevalence of admission for seizures at our emergency department (ED), during Italian lockdown, comparing with that of the same period of the previous year (2019), and the relationship with some lifestyle changes.

Reduced cardiac 123I-metaiodobenzylguanidine uptake in patients with spinocerebellar ataxia type 2: a comparative study with Parkinson's disease.

Purpose: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia, supranuclear ophthalmoplegia, and peripheral neuropathy. Autonomic nervous system dysfunction is often present. This study evaluated the cardiac sympathetic function in patients with SCA2 using (123)I-metaiodobenzylguanidine (MIBG) in comparison with patients with Parkinson's disease (PD) and control subjects.

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurological disease with mutations in SACS, encoding sacsin, a multidomain protein of 4,579 amino acids. The large size of SACS and its translated protein has hindered biochemical analysis of ARSACS, and how mutant sacsins lead to disease remains largely unknown. Three repeated sequences, called sacsin repeating region (SRR) supradomains, have been recognized, which contribute to sacsin chaperone-like activity.

Levetiracetam in clinical practice: efficacy and tolerability in epilepsy.

Background: The aim of this study was to evaluate efficacy and tolerability of levetiracetam (LEV) in patients with different epilepsy syndromes.

Methods: We evaluated epileptic patients seen in the previous 18 months, including all patients with present or past exposure to LEV. Tolerability of LEV therapy was evaluated in all patients; efficacy was evaluated only in patients who had received LEV for at least six months.

Thalamic activation and cortical deactivation during typical absence status monitored using [18F]FDG-PET: a case report.

We describe the ictal [(18)F]FDG-PET study of a case of absence status showing bilateral thalamic hypermetabolism and frontal cortex hypometabolism. This is the first ictal assessment of absence status by [(18)F]FDG-PET reporting this particular cortical and subcortical involvement. Our findings support the theory of corticothalamic circuitry involvement in the pathophysiology of absence seizures and stress the similarities of the clinical and metabolic pattern observed during absences with the pattern of task-induced interruption of the default state of brain function.

Complex phenotype in an Italian family with a novel mutation in SPG3A.

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.

Transient epileptic amnesia: an emerging late-onset epileptic syndrome.

Transient epileptic amnesia (TEA) is a distinct neurologic condition occurring in late-middle/old age and presenting with amnesic attacks of epileptic nature and interictal memory disturbances. For many years this condition has been associated with the nonepileptic condition of transient global amnesia (TGA) and still today is poorly recognized by clinicians. Despite the clinical and laboratory findings that distinguish TEA from TGA, differential diagnosis may be difficult in the individual patient.

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs. Spasticity may occur in isolation (''pure'' HSP) or may be accompanied by other features. Although autosomal recessive HSPs usually have clinically complex phenotypes, mutations within a few genes underlie pure forms.

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.

Spastic paraplegia with thinning of the corpus callosum (ARHSP-TCC) is a relatively frequent form of complicated hereditary spastic paraplegia in which mental retardation and muscle stiffness at onset are followed by slowly progressive paraparesis and cognitive deterioration. Although genetically heterogeneous, ARHSP-TCC is frequently associated with mutations in the SPG11 gene, on chromosome 15q. However, it is becoming evident that ARHSP-TCC can also be the clinical presentation of mutations in ZFYVE26 (SPG15), as shown by the recent identification of eight families with a variable phenotype.

Interleukin-10 and interleukin-12 modulation in patients with relapsing-remitting multiple sclerosis on therapy with interferon-beta 1a: differences in responders and non responders.

We examined the effects of interferon (IFN)beta-1a on interleukin (IL)-12p70 and IL-10 secretion in 27 Relapsing Remitting Multiple Sclerosis (RRMS) patients, divided in responders and non-responders. In responders, IFNbeta-1a does not change the IL-12p70 concentrations, but it leads to a remarkable increase in the IL-10 production. Besides, a high IL-10/IL-12 ratio is demonstrated during the first six months of therapy.

Levetiracetam in patients with epilepsy and chronic liver disease: observations in a case series.

Objectives: To evaluate levetiracetam (LEV) tolerability in patients with epilepsy and liver disease.

Methods: Fourteen patients with epilepsy and concomitant liver disease were treated with LEV in an open prospective investigation mimicking the daily clinical practice. All patients were stabilized (ie, for at least 1 year) on traditional antiepileptic drugs with complete or partial control of seizures.

Neuroimaging follow-up in a case of Rasmussen's encephalitis with dyskinesias.

We describe a case of adult-onset biphasic Rasmussen's encephalitis who presented seizures and left dyskinesias at the onset and, after 1 year, language disorder. Serial MRI and [(18)F] FDG-PET scans were performed showing involvement of the right cerebral hemisphere in the first phase and of the contralateral one in the second.

Levetiracetam in idiopathic generalised epilepsy and porphyria cutanea tarda.

We report the case of a 50-year-old male patient with idiopathic generalised epilepsy and porphyria cutanea tarda. Valproic acid and phenobarbital monotherapy controlled seizures but exacerbated porphyric symptomatology, while clobazam, clonazepam and lamotrigine monotherapy were well tolerated as regards porphyric disturbances but did not completely control seizures. Tonic- clonic seizures were eventually controlled by a combination of clonazepam (9 mg/day) and lamotrigine (150 mg/day), but absences persisted and this treatment caused significant adverse effects consisting of sedation and memory disturbances.