KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.

Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9. More recently, variants in KIF1A have also been described in a few cases with autosomal dominant spastic paraplegia. Here, we describe 20 KIF1A variants in 24 patients from a clinical exome sequencing cohort of 347 individuals with a mostly 'pure' spastic paraplegia.

Safety Concerns About an Epidural Blood Patch in a Patient with Extensive Epidural Fluid Accumulation.

We present a case of postdural puncture headache in a patient with extensive epidural fluid accumulation. An initial epidural blood patch was aborted because of concern about increased risk of complications. After magnetic resonance imaging, we proceeded with epidural blood patch with a good therapeutic result.

Loss of vision as a presenting sign of cobalamin deficiency: An eye-opener.

We describe a patient who presented with loss of vision that turned out to be caused by cobalamin deficiency. Both her vision and her visual field improved upon supplementation of cobalamin. It is, therefore, important to consider cobalamin deficiency as a treatable cause of loss of vision.