Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant ...

The hereditary spastic paraplegias are a group of heterogeneous disorders characterised by lower limb spasticity. Although most cases represent a ‘pure’ form, variants with additional ‘complicating’ features have been documented [1]. We report a patient with hereditary spastic paraplegia (HSP) having a demyelinating form of polyneuropathy which has not been previously associated with this condi...

The hereditary spastic paraplegias (HSPs) are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity weakness and spasticity. There have been great strides in our knowledge of this group of disabling disorders; 20 HSP loci and 9 HSP genes have been discovered. Insights into the molecular causes of HSPs are beginning to em...

In this report, we describe the case of a patient with splenic marginal zone lymphoma (SMZL) who presented with spastic paraplegia as the initial symptom. A 42-year-old male developed progressive spastic paraplegia over 4 months. His neurologic examination revealed paraplegia with pyramidal syndrome, hypoesthesia below the T1 level, and anal hypotonia. Magnetic resonance imaging (MRI) of the sp...

A family with pure Strumpell's familial paraplegia is presented. There were 11 afflicted members involving three generations. The mode of inheritance was dominant, the onset in the first decade, and in this family the disease was mild. Literature data from 104 families with 536 members dating from 1880 are tabulated. This report confirms others regarding mode of inheritance, age of onset, distr...

A patient is reported who was on prolonged treatment with dantrolene for spastic paraplegia; he developed a malignant lymphoma which led to his death.