| | Genes | Gene-encoded proteins | Inheritance | Phenotype | Clinical features |
| | RNF170 | Ring finger protein 170 (RNF170) | AD | Sensory ataxia type 1 (SNAX1) | Ear vestibular areflexia
Gait ataxia, hyporeflexia, areflexia
Distal sensory loss to all modalities (lower limbs more affected than upper limbs)
Adult onset (range 28 to 55 years)
Slowly progressive | | AR | Hereditary spastic paraplegia type 85 (SPG85) | Optic atrophy
Dysphagia, delayed motor development, spastic paraplegia, hyperreflexia of the lower limbs, ataxic gait, loss of ambulation, dysarthria, upper limb involvement-later onset, cerebellar atrophy
Axonal polyneuropathy, later onset
Onset in the first years of life |
| | ERLIN2 | Endoplasmic reticulum lipid raft-associated protein 2 (ERLIN2) | AD | Hereditary spastic paraplegia | Muscle weakness, muscle atrophy, increased muscle tone, abnormal gait, lower limb spasticity, upper limb spasticity-mild, hyperreflexia, lack of speech
Intellectual disability
Dysphagia
Later onset | | AR | Hereditary spastic paraplegia type 18 (SPG18) | Eye squint
Spine scoliosis and kyphosis, muscle weakness, muscle atrophy, increased muscle tone, abnormal gait, lower limb spasticity, upper limb spasticity-mild, extensor plantar responses, hyperreflexia, lack of speech, intellectual disability, seizures
Onset in infancy or childhood (range 1 to 6 years)
Regression in infancy
Results in severe motor disability and loss of independent ambulation |
| | ERLIN1 | Endoplasmic reticulum lipid raft-associated protein 1 (ERLIN1) | AR | Hereditary spastic paraplegia type 62 (SPG62) | Spine thoracic scoliosis, flexion contractures of the knees, amyotrophy, lower limb spasticity, spastic gait, walking on tiptoes, hyperreflexia, clonus, absent patellar reflexes
Absent Achilles tendon reflexes
Dysarthria
Age at onset, 20 months to 13 years | | AD | ? | |
| | IPRR1 | Inositol 1,4,5-triphosphate receptor, type 1 (IP3R1) | AD | Spinocerebellar ataxia type 15 (SCA15) | Eye dysmetric saccades, nystagmus, horizontal, gaze-evoked
Systemic ataxia, dysarthria, scanning speech, hyperreflexia, action tremor, postural tremor, hyperreflexia, cerebellar atrophy
Wide range of onset from childhood to adult (10 to 50 years)
Very slow progression
Most patients remain ambulatory | | AD | Spinocerebellar ataxia type 29 (SCA29) | Eyes: nystagmus and saccadic eye movements
Cerebellar ataxia, nonprogressive, delayed motor development, broad-based gait, limb ataxia, dysarthria, dysdiadochokinesis, intention tremor, dysmetria, nystagmus
Cognitive impairment-mild
Atrophy of the cerebellar vermis seen on MRI
Onset at birth | | AR/AD | Gillespie syndrome (GLSP) | Eyes: iris hypoplasia
Scalloped pupillary margins of iris, nystagmus, visual impairment, mild to moderate, general hypotonia, delayed motor development, ataxia, postural tremor, slurred speech
Intellectual disability-mild to severe
Cerebellar hypoplasia/atrophy |
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