Table 1 Summary of the clinical, neuroimaging, and genetic features of Gordon Holmes patients with RNF216 mutations (Adopted from Gonzales- Latapi et al. [2] and Wu et al. [10]
From: A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
Family and Patient (Author) | Sex | Age of onset (years) | Clinical type | Clinical feature | Pubertal development | Imaging findings | RNF216 genotype (NM_ 207,111.3) |
|---|---|---|---|---|---|---|---|
F1-P1 (Margolin DH et al.) | M | 22 | GHS | Dysarthria, ataxia, dementia, died at 43 yr | No puberty | Cerebellar and cerebral atrophy, cerebral WMLs | c.2251C > T(p.R751C); c.2251C > T(p.R751C) |
F1-P2 (Margolin DH et al.) | F | 20 | GHS | Personality change, dysarthria, ataxia, dementia, died at 41 yr | Normal puberty, secondary amenorrhea | Cerebellar and cerebral atrophy, cerebral WMLs | c.2251C > T(p.R751C); c.2251C > T(p.R751C) |
F1-P3 (Margolin DH et al.) | M | 29 | GHS | Dysarthria, ataxia and dementia, died at 47 yr | Normal puberty, erectile dysfunction | Cerebellar and cerebral atrophy, cerebral WMLs | c.2251C > T(p.R751C); c.2251C > T(p.R751C) |
F2-P4 (Margolin DH et al.) | M | 22 | GHS | Dysarthria, ataxia, dementia, chorea,gaze-evoked nystagmus, died at 36 yr | No puberty | Cerebellar atrophy, WMLs surrounding the basal ganglia, hyperintensities in basal ganglia, thalami and midbrain | c.615_616delGA(p.E205DfsX15);c.1791 T > A(p.C597X) |
F3-P5 (Margolin DH et al.) | F | 27 | GHS | Ataxia, dysarthria, dementia | No puberty | Multiple foci of subcortical WMLs, cerebellar atrophy | c.721C > T( p.Q241X) |
F4-P6 (Margolin DH et al.) | M | 21 | GHS | Slurred speech, ataxia, mood changes, memory impairment | No puberty | Cerebellar atrophy, cerebral atrophy, foci of WMLs | c.2149C > T(p.R717C) |
F5-P7 (Alqwaifly M et al.) | M | 20 | GHS | Mild ataxia | Poor development of puberty | Mild cerebellar atrophy, subcortical WMLs | c.2061G > A(splicing); c.2061G > A(splicing) |
F5-P8 (Alqwaifly M et al.) | M | 24 | GHS | Ataxia, dementia, dysarthria, broken saccadic eye movement, exaggerated deep tendon reflexes | Poor development of puberty | Cerebellar atrophy, subcortical WMLs | c.2061G > A(splicing); c.2061G > A(splicing) |
F6-P9 (Mahmood S, et al.) | M | 22 | GHS | Limb and gait ataxia, slurred speech, subcortical dementia, chorea, died at 35 yr | No puberty | Cerebellar atrophy, WMLs in both cerebral hemispheres, grey matter lesions in the thalami, T2 hyperintensities in basal ganglia, thalami, and midbrain | c.615_616delG(p.E205fsX15); c.1791 T > A(p.C597X) |
F7-P10 (Calandra CR et al.) | M | 28 | GHS | Ataxia, dysarthria, brisk tendon reflexes, dementia | Poor development of puberty | Cerebral WMLs, cortical and cerebellar atrophy | c.1988C > T(p.P663L); c.1988C > T(p.P663L) |
F7-P11 (Calandra CR et al.) | M | 27 | GHS | Dysarthria, ataxia, brisk reflexes, cognitive impairment | Poor development of puberty | Cerebral WMLs, cortical and cerebellar atrophy | c.1988C > T(p.P663L); c.1988C > T(p.P663L) |
F8-P12 (Chen et al.) | M | 33 | GHS | Dysarthria, ataxia, slurred speech, cognitive impairment | Post pubertal infertility | Cerebral WMLs, cerebellar atrophy | c.1948G > T (p.E650X) |
F9-P13 (Wu CJ et al.) | M | 26 | GHS | Dysarthria, ataxia, cognitive decline | No puberty | Cerebellar and cerebral atrophy, supratentorial WMLs, involvement of brainstem and thalami | c.1549C > T(p.R517X); c.1549C > T(p.R517X) |
F 10-P14 Çelik et al. | M | 18 | GHS | Dysarthria, severe ataxia, appendicular dysmetria, and dysdiadochokinesia, slightly generalized chorea parkinsonizm, slight dystonia, fragmented pursuit eye movements, slow hypometric saccades, vertical gaze palsy, and square wave jerks in horizontal pursuit | No puberty | Severe cerebellar and vermis atrophy, dilated third and lateral ventricles, slight cerebral cortical atrophy, mesencephalic slight atrophy, and periventricular confluent white matter lesions | c.1860_1861dupCT (p.Cys621SerfsTer56) |