Atypical progression of motor symptoms in facio-scapulo-humeral dystrophy: clinical worsening or overlap?

Facio-scapulo-humeral dystrophy (FSHD) is a common muscular dystrophy featuring progressive weakness, mostly involving facial muscles and the scapular cingulum. FSHD is an autosomal-dominant inherited disease driven by the contraction of the D4Z4 region of chromosome 4. Patients with FSHD have a high life expectancy, about 20% of FSHD subjects need wheelchairs in their 50s, and extramuscular involvement is rare, however, no epidemiological studies have been carried out on this data.Our case describes a man affected by FSHD who, in his 60s, developed atypical Parkinsonism diagnosed as progressive supranuclear palsy (PSP).FSHD symptoms can hide other neuromuscular diseases developed on ageing. This case highlights the importance of considering possible overlaps with other neurodegenerative diseases.

Migraine Pharmacological Treatment and Cognitive Impairment: Risks and Benefits.

Migraine is a common neurological disorder impairing the quality of life of patients. The condition requires, as an acute or prophylactic line of intervention, the frequent use of drugs acting on the central nervous system (CNS). The long-term impact of these medications on cognition and neurodegeneration has never been consistently assessed. The paper reviews pharmacological migraine treatments and discusses their biological and clinical effects on the CNS. The different anti-migraine drugs show distinct profiles concerning neurodegeneration and the risk of cognitive deficits. These features should be carefully evaluated when prescribing a pharmacological treatment as many migraineurs are of scholar or working age and their performances may be affected by drug misuse. Thus, a reconsideration of therapy guidelines is warranted. Furthermore, since conflicting results have emerged in the relationship between migraine and dementia, future studies must consider present and past pharmacological regimens as potential confounding factors.

A Young Man with Cognitive Impairment and a Heart Condition.

A 43-year-old came to our observation for progressive cognitive impairment, confirmed by the neuropsychological evaluation. A diagnosis of multidomain amnestic mild cognitive impairment, due to unknown reasons, was posited at the first assessment. The patient's neurological exam was otherwise completely normal. The patient's mother was clinically diagnosed with frontotemporal dementia in her forties. The patient underwent neuroimaging investigations and cerebrospinal fluid analysis. Our diagnostic work-up pointed toward a neurodegenerative etiology, but the presence of concurrent cardiomyopathy emerged in the meantime. Due to the patient's family history, a thorough genetic screening was performed. The results revealed a unique genetic asset, with heterozygotic variants of three amyloid-related genes (PSEN1, APP, and MYBPC3). PSEN1 and MYBPC3 mutations showed distinct pathogenic features and accounted for the patient's brain and cardiac amyloidosis, whereas the APP variant was of uncertain pathological implications.

COVID-19 and first manic episodes: a systematic review.

Sars-CoV-2 is a respiratory virus that can access the central nervous system, as indicated by the presence of the virus in patients' cerebrospinal fluid and the occurrence of several neurological syndromes during and after COVID-19. Growing evidence indicates that Sars-CoV-2 can also trigger the acute onset of mood disorders or psychotic symptoms. COVID-19-related first episodes of mania, in subjects with no known history of bipolar disorder, have never been systematically analyzed. Thus, the present study assesses a potential link between the two conditions. This systematic review analyzes cases of first appearance of manic episodes associated with COVID-19. Clinical features, pharmacological therapies, and relationships with pre-existing medical conditions are also appraised. Medical records of twenty-three patients fulfilling the current DSM-5 criteria for manic episode were included. Manic episodes started, on average, after 12.71±6.65 days from the infection onset. Psychotic symptoms were frequently reported. 82.61% of patients exhibited delusions, whereas 39.13% of patients presented hallucinations. A large discrepancy in the diagnostic workups was observed. Mania represents an underestimated clinical presentation of COVID-19. Further studies should focus on the pathophysiological substrates of COVID-19-related mania and pursue appropriate and specific diagnostic and therapeutic workups.