Journal of Neurology Research, ISSN 1923-2845 print, 1923-2853 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Neurol Res and Elmer Press Inc
Journal website

Case Report

Volume 9, Number 4-5, October 2019, pages 81-88

Characteristic Analysis and Literature Review of Hereditary Spinocerebellar Ataxia With Lumbar Spondylolisthesis and Valvular Prolapse


Figure 1.
Figure 1. Proband’s craniocerebral and cervical MRI. Sagittal scan of craniocerebral showed: cerebellar cortical sulcus widened, cerebellar atrophy as a whole; brain stem atrophy obviously, and dorsal curvature of the pons disappeared basically; cerebellar upper pool, cerebellar medullary pool, and fourth ventricle were enlarged. Transverse craniocerebral scan showed: the cerebellar sulcus widened and deepened, and vermis atrophy; brain pool around the brain stem expands. The sagittal position of the cervical spinal cord showed: the cervical spinal cord was significantly thinner. MRI: magnetic resonance imaging.
Figure 2.
Figure 2. Proband’s lumbar spondylolisthesis images. (a) Lumbar sagittal MRI: L3 slipped slightly backward. (b) Lumbar CT surface reconstruction image: L3 spondylolisthesis to the right. CT: computed tomography.
Figure 3.
Figure 3. Family genealogy.


Table 1. Genetic and Clinical Features of Similar SCA Subtypes
SCAsGene lociCoding proteinsCAG repetitionOnset (years)Clinical characteristics
“-”represents no data. The clinical symptoms of the patient are enclosed in quotation marks. N: normal; P: patient; SCA: spinocerebellar ataxia.
SCA16p22Ataxin-1N < 39
P ≥ 40
30 (6 - 60)Ophthalmoplegia, upper vision difficulty
SCA212p24.12Ataxin-2N = 14 - 32
P ≥ 35
30 (baby - 67)“Weak tendon reflex”, slow eye straddle
SCA314p32.1Ataxin-3N < 42
P ≥ 61
30 (6 - 70)“Muscle atrophy”, myoclonus, lingual fibrillation, “proptosis”
Machado’s disease14p32.1Ataxin-3N = 12 - 44
P > 51
> 50“Proptosis”, nystagmus, eyelid opening difficulty, upper vision difficulty, “dysarthria”, limb bundle tremor and “terminal muscular atrophy”, “ataxia gait”, “weakened tendon reflex”, hypoesthesia, scoliosis, “arch foot”
SCA416p22.1PLEKHG4-40 or 50Vibration sensation, joint position sensation disappeared, pain sensation decreased, “Achilles tendon reflex disappeared”
SCA73p14.1Ataxin-7N < 36
P ≥ 37
30 (baby - 60)Vision loss, retinitis pigmentosa, “heart damage”
SCA176p27TBPN = 25 - 23
P > 45
23 (3 - 48)“Ataxia”, “bradykinesia”, mental symptoms, cognitive impairment, dancing and epileptic seizures
SCA2011p12--46.5 (19 - 64)“Ataxia”, “dysarthria”, maxillary tremor, “bradykinesia”, calcium deposition of dentate nucleus
--17 - 39“Ataxia”, sensory neuropathy, weakened tendon reflexes, impaired vision, facial convulsions, urination symptoms
SCA4014p32.11CCDC88C-42“Ataxia”, “broad basal gait”, “poor distance discrimination”, tremor of intention, “rotation test positive”, tendon hyperreflexia