Spasticity

Hereditary Spastic Paraplegia

• Strumpell-Lorrain Disease

• Mainly autosomal dominant

• Onset at any age

Aetiology

• Multiple, rapidly expanding, number of genes (>80)

• Each geneotype named SPG

SPG		Onset		Inheritance
4	Spastin (SPAST)	20’s	40-50% of HSP	AD
3A	Atlastin (ALT1)	Childhood	Common	AD
7	Paraplegin	Adult	Most common AR	AR
1	L1CAM	Infancy	Common X-linked	XR
2	PLP	Infancy	Common x-linked	XR

Clinical features – typical form

• Gradual development of spastic weakness of the legs

• Increased reflexes and upgoing plantar

• Weakness is variably affected and difficult to assess

• Variable involvement of the arms

• Sphincter function normal

• Other features (mainly seen in variants – see below)

o Nystagmus

o Occular palsy

o Optic atrophy

o Ataxia

o Neuropathy

o Epilepsy

o Dementia

•

Clinical variants

• HSP with ataxia

o Can be due to SAX1 gene

• HSP with Extra-pyramidal signs

• HSP with optic atrophy

• HSP with macular degeneration

• HSP with developmental delay or dementia

• HSP with polyneuropathy

• HSP with distal muscle wasting