Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.

Background: Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders.

Objective: Describe the main features of subjects with SPG7 mutations associated with movement disorders.

Methods: We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders.

Aggression Toward Others Misdiagnosed as Primary Tics.

Background: Tics describe a wide range of sudden and repetitive behaviors. Their multifaceted clinical features may resemble other explosive behaviors, including repetitive episodes of aggression toward others (allo-aggression) reported by subjects without tics. Here, we document 3 exemplary cases that help disentangle allo-aggressive behaviors from tics.

A Novel Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia.

Background: Myoclonus-Dystonia syndrome (M-D) is an autosomal-dominant movement disorder related to gene pathogenic variants. Although there can be observed variability in clinical findings, here we describe intrafamilial variability in a Turkish family with a novel nonsense pathogenic variant.

Methods: A family with variable clinical symptoms resembling M-D were referred to our clinic.

Terminal complement activation is increased and associated with disease severity in CIDP.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is the most common chronic autoimmune neuropathy. While both cell-mediated and humoral mechanisms contribute to its pathogenesis, the rapid clinical response to plasmapheresis implicates a circulating factor responsible for peripheral nerve injury. We report that treatment-naïve patients with CIDP show increased serum and CSF levels of the anaphylatoxin C5a and the soluble terminal complement complex (sTCC).

Effects of Ncl. Basalis Meynert volume on the Trail-Making-Test are restricted to the left hemisphere.

Background: Cortical acetylcholine released from cells in the basal forebrain facilitates cue detection and improves attentional performance. Cholinergic fibres to the cortex originate from the CH4 cell group, sometimes referred to as the Nucleus basalis of Meynert and the Nucleus subputaminalis of Ayala. The aim of this work was to investigate the effects of volumes of cholinergic nuclei on attention and executive function.

Safe Administration of Botulinum Toxin Type A Injections During Pregnancy: A Report of Two Cases.

Local injections of botulinum toxin type A (BoNT/A) are safe and efficacious to treat focal and segmental dystonia. However, there are no adequate studies in humans regarding the safety of BoNT/A during pregnancy. Despite the fact that 25 case reports have been published on patients who received BoNT/A injections during a total of 31 pregnancies, in only 3 patients were the injections continued beyond the first trimester.

7-Tesla Magnetic Resonance Imaging for Brain Iron Quantification in Homozygous and Heterozygous Mutation Carriers.

Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron deposits in basal ganglia. The aim of this study was to quantify iron concentrations of deep gray matter structures in heterozygous mutation carriers and in PKAN patients using quantitative susceptibility mapping MRI. By determining iron concentration, we intended to find mutation-specific brain parenchymal stigmata in heterozygous mutation carriers in comparison to age-matched healthy volunteers.