MANAGEMENT: Treatment of manifestations: Clonazepam or valproic acid to help improve axial myoclonus; canes and walkers to help prevent falls; modification of the home (grab bars, raised toilet seats, ramps for motorized chairs); weighted eating utensils [ncbi.nlm.nih.gov]

Evaluation at 1 month (plus or minus 5 days) and 3 months (plus or minus 5 days) Outcome Measures Primary Outcomes Incidence of side effects Side effect profile Secondary Outcomes Timed-up-and-go test ICARS score SARA score Modified Falls Efficacy Scale [clinicaltrials.gov]

[…] in a family with an ADCA that has not been assigned an SCA number. 17 SCA 14 is due to mutation (missense, small deletion, splice site) in the PRKCG gene. 2, 3, 6, 7 Most mutations have been in the cysteine rich region of the gene, and most of these fall [jnnp.bmj.com]

This falls under the category of genetic anticipation. [ citation needed ] Several types of SCA are characterized by repeat expansion of the trinucleotide sequence CAG in DNA that encodes a polyglutamine repeat tract in protein. [en.wikipedia.org]

Table 1 Clinical observations in six members of the Australian SCA 14 family Examination revealed cerebellar ataxia with abnormal eye movements and brisk reflexes. [jnnp.bmj.com]

Egan RA, Camicioli R, Popovich BW: A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements. Eur Neurol 2000; 44: 189-190. [scabase.eu]

We also found that mutant PKCγ colocalized with wild-type PKCγ, which suggests that mutant PKCγ acts in a dominant-negative manner on wild-type PKCγ. In contrast, PKCα did not colocalize with mutant PKCγ. [ncbi.nlm.nih.gov]

ideation 0.22 (0.30) 0.17 (0.19) Psychoticism 0.09 (0.14) 0.03 (0.05) Extra-scale 0.50 (0.69) 0.83 (0.51) Clinical assessment All affected subjects underwent a standardized neurological clinical investigation at baseline and at three years follow up. [bmcneurol.biomedcentral.com]

In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. [orpha.net]

Affiliated tissues include eye, brain and cerebellum, and related phenotypes are progressive cerebellar ataxia and hyperreflexia OMIM : 56 Autosomal recessive spinocerebellar ataxia-14 is a neurologic disorder characterized by delayed psychomotor development [malacards.org]

All had at least mild hyperreflexia, with evidence of abnormal reflex spread in the upper and/or lower limbs in four of the six subjects. [jnnp.bmj.com]

mild SCA12 (autosomal dominant type 12) 5q31-q33, 66 CAG repeats in the promotor region, coding for protein phosphatase 2A Tremor, bradykinesia, parkinsonism, dementia, hyperreflexia SCA13 (single French family) 19q13.3-q13.4 (6q27 with CAG repeats [bcm.edu]

FGF14 13q34 SCA35 40-48 years Unknown gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses, reduced proprioception and hyperreflexia China transglutaminase 6 ( TGM6 [en.wikipedia.org]

Mild or moderate cerebellar ataxia was present in the upper and lower limbs, with all affected patients showing signs of dysmetria, overshoot on ballistic tracking movements, abnormal ramp tracking in the upper limbs, and dyssynergia and dysmetria in [jnnp.bmj.com]

FGF14 13q34 SCA35 40-48 years Unknown gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses, reduced proprioception and hyperreflexia China transglutaminase 6 ( TGM6 [en.wikipedia.org]

During the last two decades there has been a growing interest for the cerebellum’s role also in non-motor functions, with the introduction of the “dysmetria of thought”-hypothesis and the clinically described Cerebellar Cognitive Affective Syndrome (CCAS [bmcneurol.biomedcentral.com]

We describe three genetically confirmed myoclonus dystonia (M-D) patients and one spinocerebellar ataxia type 14 (SCA14) patient, presenting with a combination of trunk tremor, multifocal myoclonus and axial dystonia as predominant clinical features. [ncbi.nlm.nih.gov]

Recessive WWOX mutations were also recently identified in spinocerebellar ataxia type 12, a known neurodegenerative disorder that is also accompanied by intellectual disability and epilepsy with generalized tonic-clonic seizures. Synthesis. [epilepsygenetics.net]

Two had a mild spastic catch at the knees (Modified Ashworth Scale grade 1), but ankle clonus was absent and Babinski reflexes were downgoing in all. Two of the six subjects demonstrated decreased distal pinprick sensation in the lower limbs. [jnnp.bmj.com]

Brain MRI shows cerebellar atrophy. A single autopsy has shown loss of cerebellar Purkinje cells. The disease is caused by mutations in the protein kinase C gamma (PKCγ, PRKCG) gene with a hotspot for mutations in exon 4. [ncbi.nlm.nih.gov]

Sagittal T1-weighted MRI showing cerebellar atrophy ( a, arrow). [karger.com]

matter lesions Controls Ten family members, six females and four males, were included as intrafamilial controls. [bmcneurol.biomedcentral.com]