JNS.jpgThe April issue of the Journal of the Neurological Sciences Vol 411 is now available online.


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Issue highlights

Leptomeningeal metastasis from solid tumors

Central nervous system (CNS) metastasis from systemic cancers can involve the brain parenchyma, leptomeninges (pia, subarachnoid space and arachnoid mater), and dura. Leptomeningeal metastases (LM), also known by different terms including neoplastic meningitis and carcinomatous meningitis, occur in both solid tumors and hematologic malignancies.

This review will focus exclusively on LM arising from solid tumors with a goal of providing the reader an understanding of the epidemiology, pathophysiology, clinical presentation, prognostication, current management and future directions.

Predictors of recurrent febrile seizures during the same febrile illness in children with febrile seizures

Febrile seizures (FS) are common in childhood. Of children who experience an FS, 14–24% experience recurrence within 24 h, during the same febrile illness (RFS).

The aim of this pilot study was to identify the predictors of RFS among children who experience FS. In a retrospective cohort study of children aged 6–60 months, who visited the emergency department at Atsugi City Hospital in Japan for treatment of an FS between December 1, 2018 and February 28, 2019, the incidence of RFS was significantly higher in children with a body temperature ≤ 39.8 °C during the visit.

In conclusion, the incidence of RFS was 17.6%. The major predictors of RFS were male sex and a body temperature ≤ 39.8 °C.

Correlation between regional brain volume and olfactory function in very mild amnestic patients

70 patients with chief complaints of memory impairment diagnosed as amnestic mild cognitive impairment (MCI) or Alzheimer's disease (AD) with a clinical dementia rating of 0.5 were recruited to determine neural correlates of olfactory detection and identification and analyze associations between cognitive function and olfactory identification or detection in very mild amnestic patients.

The study found that olfactory detection and identification dysfunction were attributable to impairments in different regions in MCI and very early AD; the former was attributed to the olfactory circuit, while the latter to neocortices.

The dysfunction of identification of olfactory information was associated with episodic memory in those patients.


Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia

Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs.

This study aimed to identify causative gene variants in two unrelated consanguineous Pakistani families presented with 2 different forms of HSP.

The findings enhance the clinical and genetic variability associated with two rare autosomal recessive HSP genes, highlighting the complexity of HSPs, and further emphasize the usefulness of WES as a powerful diagnostic tool.