The term "hereditary spastic paraplegia" (or "hereditary spastic paraparesis") (HSP) is used to describe a group of clinically heterogeneous neurodegenerative disorders in which the predominant feature is progressive spasticity associated with mild weakness of the lower limbs, which may be accompanied by bladder disturbances and subtle vibratory sense impairment.

These disorders are classified as either "pure" (or "uncomplicated"), when the above features occur in isolation, or "complicated," in the presence of additional neurological manifestations, such as mental retardation, extrapyramidal symptoms, deafness, or optic neuropathy.

Types

 autosmal dominant hereditary spastic paraplegias
 autosmal recessive hereditary spastic paraplegia

Etiology

20 loci chromosomally mapped and eight genes identified in 2003.

 SPG1 [MIM.312900]
 SPG2 [MIM.312920]
 SPG3A [MIM.182600]
 SPG4 [MIM.182601]
 SPG5A [MIM.270800]
 SPG6 [MIM.600363] at 15q11-q13): mutations in NIPA1 encoding a putative membrane transporter or receptor (autosomal dominant HSP)
 SPG7 [MIM.600146] at 16q24.3: mutations in SPG7 coding for paraplegin
 SPG8 [MIM.603563]
 SPG9 [MIM.601162]
 SPG10 [MIM.604187]: mutation in KIF5A enciding neuronal kinesin heavy chain (KIFs) (#12355402#)
 SPG11 [MIM.604360]
 SPG12 [MIM.604805]
 SPG13 [MIM.605280]
 SPG14 [MIM.605229]
 SPG15 [MIM.606859]
 SPG16 [MIM.300266]
 SPG17 [MIM.270685]
 SPG19 [MIM.607152]
 SPG20 [MIM.275900]

References

- Gould RM, Brady ST. Neuropathology: many paths lead to hereditary spastic paraplegia. Curr Biol. 2004 Oct 26;14(20):R903-4. PMID: #15498485#