Table 2

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

Association	Disease/main feature	Description/references
Amyotrophy		Resembling hereditary motor and sensory neuropathy	Distal weakness and wasting combined with brisk reflexes, extensor plantar responses and pes cavus (AD).26-28
		of small muscles of hands	Severe wasting of the small muscles of the hand with marked sparing of the lower limb musculature (AD).29
		Troyer syndrome	Distal wasting in the limbs with delayed development, spastic tetraparesis, pseudobulbar palsy, choreathetosis and short stature in Amish people (AR).30
		Charlevoix–Saguenay syndrome	Similar to Troyer syndrome but found in Quebec.31
Cardiac defects	—	Also associated with mental retardation.32
Cerebellar signs	—	Dysarthria with a mild upper limb ataxia.33
Deafness	Sensorineural	X—linked.34
Dementia	Subcortical or cortical pattern	Dementia 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
Epilepsy		Myoclonus	41–43
		Simple/complex partial	42
		Absence	41 44
		Grand mal	45 46
		Atonic episodes	41 43
Extrapyramidal signs		Choreoathetosis	47 48
Extrapyramidal signs		Dystonia and rigidity
Icthyosis	Sjögren-Larsson syndrome	Also with mental retardation and occasionally a pigmentary macular degeneration (AR).49
Sensory neuropathy		Asymptomatic	Sensory neuropathy detected only on clinical examination.50
		Childhood onset	With painless ulcers and deformities secondary to neuropathic bone resorption.51
		Adult onset	Trophic skin changes and foot ulcers.52 53
Retinal changes		Optic atrophy	37 54 55
Retinal changes		Retinal degeneration	56 57
Others		Kallmann's syndrome	Hypogonadotrophic hypogonadism and anosmia.58
		Hyperekplexia	Neonatal hypertonia and an exaggerated startle response (AD).59
		MASA syndrome	Mental retardation, aphasia, a shuffling gait and adducted thumbs. Caused by mutations in L1CAM gene (X-linked).60 61
		Mast syndrome	Dementia, dysarthria and athetosis in Amish people with onset in 2nd decade (AR).62
		Kjellin syndrome	Dysarthria, upper limb ataxia, dementia, retinal degeneration±amyotrophy (AR).63
		SPG9	Bilateral cataracts, gastro-oesophageal reflux and amyotrophy.64

AD=autosomal dominant; AR=autosomal recessive.