“… T | Frontotemporal dementia with inclusion body myositis, Paget’s disease of bone | VCP mutations | Niemann-Pick type C [ 120 ] | F; RC | T c | Ataxia, supranuclear gaze palsy, dystonia, psychiatric features, cataplexy, seizures, splenomegaly | Skin fibroblast studies (accumulation of unesterified cholesterol), genotyping |
Oculo-leptomeningeal amyloidosis [ 121 ] | F; RC? a | F | Seizures, stroke-like episodes, headache, ataxia, myelo-radiculopathy, subarachnoid haemorrhage, ocular amyloid | Abnormal meningeal enhancement on contrast MRI Transthyretin mutations |
Refsum disease [ 122 ] | F; RC | U | Retinitis pigmentosa, anosmia, polyneuropathy | Raised plasma phytanic acid PHYH mutation |
Spinocerebellar ataxias: [ 83 ] | F; C, RC i | F | Truncal/limb ataxia, bulbar deficits, proprioceptive impairment, neuropathy, variably prominent across group | Various mutations (most frequently, trinucleotide repeat expansions) |
Friedreich’s ataxia [ 123 ] | Cardiomyopathy, diabetes mellitus (adult onset milder) | FXN expansions |
SCA13 [ 124 ] | Gait/limb ataxia, dysarthria, hyperreflexia, vibration sense loss | KCNC3 mutations |
Wolfram’s syndrome [ 125 ] | T; RC | F j | Optic atrophy, diabetes | WFS1 mutations |
Other |
Prion diseases [ 126 ] | U; RC | T | Rapi... |
…”