Amyotrophy

Peroneal muscular atrophy

Amyotrophy associated with an axonal sensory and motor neuropathy (AD)

Silver syndrome

Severe wasting of the small muscles of the hand with sparing of the lower limb musculature. Linked to SPG17 (AD)

Troyer syndrome

Distal wasting in the limbs with delayed development, spastic quadraparesis, pseudobulbar palsy, choreathetosis, and short stature. Linked to SPG20 (AR).

Charlevoix–Saguenay syndrome

Similar to Troyer syndrome with additional ataxia, described in Quebec (AR)

Resembling juvenile FALS

Childhood onset (AR)

Cardiac defects

-

Associated with mental retardation

Cerebellar signs

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Dysarthria with a mild upper limb ataxia

Deafness

Sensori-neural

X-linked

Dementia

Subcortical or cortical pattern

Dementia can occur in isolation with HSP, when it tends to be of the subcortical type, or be part of a much more complex phenotype (AR and AD). Linkage to SPG4 locus in a number of families

Endocrine dysfunction

Kallmann’s syndrome

Hypogonadotrophic hypogonadism and anosmia

Epilepsy

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Various epileptic seizure types have been descibed incuding; absence, simple/complex partial, atonic, grand mal, and myoconic

Extrapyramidal Signs

Choreoathetosis

Dystonia and rigidity

Mast syndrome

Dementia, dysarthria, and athetosis in Amish people with onset in 2nd decade (AR)

Hyperekplexia

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Neonatal hypertonia and an exaggerated startle response (AD).

Icthyosis

Sjögren–Larsson syndrome

Also with mental retardation and occasionally a pigmentary macular degeneration (AR).

Retinal changes

Optic atrophy

Retinal degeneration

Pigmentation seen in SPG15.

Kjellin syndrome

Dysarthria, upper limb ataxia, dementia, retinal degeneration +/− amyotrophy (AR).

Sensory neuropathy

Asymptomatic

Sensory neuropathy detected only on clinical examination.

Childhood onset

With painless ulcers and deformities secondary to neuropathic bone resorption.

Adult onset

Trophic skin changes and foot ulcers.

Others

SPG 1

Mental retardation, aphasia, a shuffling gait, and adducted thumbs. Caused by mutations in L1CAM gene (X-linked).

SPG 9

Bilateral cataracts, gastroesophageal reflux, and amyotrophy