Table 2

Clinical features which may be seen in addition to spastic paraparesis in complicated hereditary spastic paraparesis

Association Disease/main feature Description/references
AmyotrophyResembling hereditary motor and sensory neuropathyDistal weakness and wasting combined with brisk reflexes, extensor plantar responses and pes cavus (AD).26-28
of small muscles of handsSevere wasting of the small muscles of the hand with marked sparing of the lower limb musculature (AD).29
Troyer syndromeDistal wasting in the limbs with delayed development, spastic tetraparesis, pseudobulbar palsy, choreathetosis and short stature in Amish people (AR).30
Charlevoix–Saguenay syndromeSimilar to Troyer syndrome but found in Quebec.31
Cardiac defectsAlso associated with mental retardation.32
Cerebellar signsDysarthria with a mild upper limb ataxia.33
DementiaSubcortical or cortical patternDementia can occur in isolation with HSP,35-38 when it tends to be of the subcortical type, or be part of a much more complex phenotype (AR and AD).39 Linkage to SPG4 locus in a number of families.38-40
Simple/complex partial42
Absence41 44
Grand mal45 46
Atonic episodes41 43
Extrapyramidal signsChoreoathetosis47 48
Dystonia and rigidity
IcthyosisSjögren-Larsson syndromeAlso with mental retardation and occasionally a pigmentary macular degeneration (AR).49
Sensory neuropathyAsymptomaticSensory neuropathy detected only on clinical examination.50
Childhood onsetWith painless ulcers and deformities secondary to neuropathic bone resorption.51
Adult onsetTrophic skin changes and foot ulcers.52 53
Retinal changesOptic atrophy37 54 55
Retinal degeneration56 57
OthersKallmann's syndromeHypogonadotrophic hypogonadism and anosmia.58
HyperekplexiaNeonatal hypertonia and an exaggerated startle response (AD).59
MASA syndromeMental retardation, aphasia, a shuffling gait and adducted thumbs. Caused by mutations in L1CAM gene (X-linked).60 61
Mast syndromeDementia, dysarthria and athetosis in Amish people with onset in 2nd decade (AR).62
Kjellin syndromeDysarthria, upper limb ataxia, dementia, retinal degeneration±amyotrophy (AR).63
SPG9Bilateral cataracts, gastro-oesophageal reflux and amyotrophy.64
  • AD=autosomal dominant; AR=autosomal recessive.