vals007 p  (Cell Signaling Technology Inc)

Journal: European Journal of Human Genetics

Article Title: FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

doi: 10.1038/ejhg.2016.186

Figure Lengend Snippet: Rare or novel heterozygous non-silent variants in the FIG4 gene predicted to be deleterious identified in 201 central European ALS patients

Article Snippet: Varying degrees of brain atrophy, particularly in the frontoparietal region, were found in all FIG4 variant carriers by cranial MRI. table ft1 table-wrap mode="anchored" t5 caption a7 Patient Amino-acid change Inheri-tance Gender Country of origin Age of onset (years) Site of onset Diagnosis El Escorial Diseaseduration (years) a Neurological non-motor neuron symptoms EMG NCS Cranial MRI MD072 p.(I41T) Sporadic F Italy 43 Spinal PLS Possible ALS 12.25 Pathological laughing and crying No acute/chronic denervation Normal Precentral gyrus thinning, mild frontoparietal atrophy, no ventricular enlargement, no T2 hyperintensity in the CST FamALS006–01 p.(F254Sfs*8) Familial M Germany 40 Spinal ALS Clinically probable ALS 2.67 None Acute/chronic denervation UE, LE, thoracic Reduction of CMAP and prolongation of DML Severe frontoparietal atrophy, no ventricular enlargement, no T2 hyperintensity in the CST VALS042 p.(D307N) Sporadic M Germany 78 Bulbar ALS-UMN Clinically probable ALS 5.25 Sensory impairment for vibration, light touch Chronic denervation UE, LE Motor-sensory axonal neuropathy Age-related symmetric atrophy and ventricular enlargement, no T2 hyperintensity in the CST VALS007 p.(T540I) Sporadic F Germany 72 Bulbar PLS Possible ALS 3.25 Mild cognitive impairment, sensory impairment for vibration Sparse and stable signs of acute/chronic denervation (LE only) Reduction of CMAP and prolongation of DML Moderate frontoparietal atrophy and ventricular enlargement, no T2 hyperintensity in the CST VALS012 p.(Y647C) Sporadic M Germany 66 Spinal ALS-flail arm — 5.25 None Acute/chronic denervation UE, LE Motor-sensory axonal neuropathy Mild frontoparietal atrophy and ventricular enlargement, no T2 hyperintensity in the CST VALS015 p.(S853L) Sporadic F Germany 48 Spinal ALS Clinically probable ALS 0.92 Minimal sensory impairment for vibration Acute/chronic denervation Mild motor–sensory axonal neuropathy Mild frontoparietal atrophy, no ventricular enlargement, no T2 hyperintensity in the CST Open in a separate window Abbreviations: ALS, amyotrophic lateral sclerosis; CMAP, compound motor action potential; CST, corticospinal tract; DML, distal motor latency; EMG, electromyography; F, female; LE, lower extremity; M, male; MRI, magnetic resonance imaging; NCS, nerve conduction study; PLS, primary lateral sclerosis; UE, upper extremity; UMN, upper motor neuron.

Techniques:

Journal: European Journal of Human Genetics

Article Title: FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

doi: 10.1038/ejhg.2016.186

Figure Lengend Snippet: Clinical, electrophysiological, and neuroradiological characteristics of ALS patients carrying heterozygous deleterious FIG4 variants

Article Snippet: Varying degrees of brain atrophy, particularly in the frontoparietal region, were found in all FIG4 variant carriers by cranial MRI. table ft1 table-wrap mode="anchored" t5 caption a7 Patient Amino-acid change Inheri-tance Gender Country of origin Age of onset (years) Site of onset Diagnosis El Escorial Diseaseduration (years) a Neurological non-motor neuron symptoms EMG NCS Cranial MRI MD072 p.(I41T) Sporadic F Italy 43 Spinal PLS Possible ALS 12.25 Pathological laughing and crying No acute/chronic denervation Normal Precentral gyrus thinning, mild frontoparietal atrophy, no ventricular enlargement, no T2 hyperintensity in the CST FamALS006–01 p.(F254Sfs*8) Familial M Germany 40 Spinal ALS Clinically probable ALS 2.67 None Acute/chronic denervation UE, LE, thoracic Reduction of CMAP and prolongation of DML Severe frontoparietal atrophy, no ventricular enlargement, no T2 hyperintensity in the CST VALS042 p.(D307N) Sporadic M Germany 78 Bulbar ALS-UMN Clinically probable ALS 5.25 Sensory impairment for vibration, light touch Chronic denervation UE, LE Motor-sensory axonal neuropathy Age-related symmetric atrophy and ventricular enlargement, no T2 hyperintensity in the CST VALS007 p.(T540I) Sporadic F Germany 72 Bulbar PLS Possible ALS 3.25 Mild cognitive impairment, sensory impairment for vibration Sparse and stable signs of acute/chronic denervation (LE only) Reduction of CMAP and prolongation of DML Moderate frontoparietal atrophy and ventricular enlargement, no T2 hyperintensity in the CST VALS012 p.(Y647C) Sporadic M Germany 66 Spinal ALS-flail arm — 5.25 None Acute/chronic denervation UE, LE Motor-sensory axonal neuropathy Mild frontoparietal atrophy and ventricular enlargement, no T2 hyperintensity in the CST VALS015 p.(S853L) Sporadic F Germany 48 Spinal ALS Clinically probable ALS 0.92 Minimal sensory impairment for vibration Acute/chronic denervation Mild motor–sensory axonal neuropathy Mild frontoparietal atrophy, no ventricular enlargement, no T2 hyperintensity in the CST Open in a separate window Abbreviations: ALS, amyotrophic lateral sclerosis; CMAP, compound motor action potential; CST, corticospinal tract; DML, distal motor latency; EMG, electromyography; F, female; LE, lower extremity; M, male; MRI, magnetic resonance imaging; NCS, nerve conduction study; PLS, primary lateral sclerosis; UE, upper extremity; UMN, upper motor neuron.

Techniques: