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 | |
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 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.