Troyer syndrome: Report of the first “non‐Amish” sibship and review

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

“…Neurological manifestations in addition to spastic paraplegia, urinary urgency, and sensory disturbances, include paraspasticity of the upper limbs, shy character, emotional lability, intellectual disability, cognitive impairment, dementia, epilepsy, aphasia, dystonia, extrapyramidal disturbances (Parkinsonism, chorea, athetosis, dyskinesia), cerebellar abnormalities (atrophy, nystagmus, dysarthria, anarthria, dysphagia (pseudobulbar signs), ataxia, tremor, shuffling gait), hydrocephalus, dysmorphic features (microcephaly, posterior fossa abnormalities), white matter lesions (WMLs), spinal cord atrophy, muscle wasting, or polyneuropathy (PNP) [2] in the absence of coexisting disorders. Affection of the lower motor neurons in complex SPG predominantly concerns the distal muscles of the upper as well as lower limbs [9,10]. An increasing number of patients with the complex phenotype presents with WMLs, thin corpus callosum, or cerebral or spinal cord atrophy.…”

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14

“…9 11 In the current study we have ascertained a large consanguineous family comprising five affected and seven unaffected siblings in which the parents were first cousins of Bedouin ancestry. 12 A uniform early onset of disease at between seven and eight years of age was noted. At the time of examination all affected individuals had signs of a progressive spastic paraparesis with dysarthria and distal amyotrophy in both upper and lower limbs.…”

Troyer syndrome revisited

“…There was no evidence of a peripheral neuropathy. Subtle changes seen in one on EMG could be compatible with denervation due to anterior horn cell degeneration, although further studies including muscle biopsy are needed to clarify this point.A Kuwaiti family reported as Troyer syndrome (but with no abnormalities apparent before the age of 7 years) had normal nerve conduction velocities and EMG [12]. An Austrian family reported as Troyer syndrome had chronic denervation and reduced nerve conduction velocities [1].…”

“…There were 20 known cases of Troyer syndrome, of which 17 were examined. There have since been several reports of similar cases around the world, although there were usually some differences from the original Troyer syndrome description [1,4,12,13,18,23]. Furthermore, as the original study predated modern imaging technologies, comparison with radiological findings reported in other populations was not possible.…”