Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

TARDBP Mutation Presenting as Progressive Hemiplegia.

ABSTRACT:

SUBMITTER: Lidstone SC

PROVIDER: S-EPMC6353312 | biostudies-literature | 2017 May-Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

<i>TARDBP</i> Mutation Presenting as Progressive Hemiplegia.

Lidstone Sarah C SC Tang-Wai David F DF Silver Frank L FL Lang Anthony E AE

Movement disorders clinical practice 20160818 3

PMID: 30838278

Similar Datasets

Bilateral persistent primitive hypoglossal artery presenting with hemiplegia<sup>✰</sup>.

Project description:The manuscript describes an unusual vascular anomaly. Persistence of carotid-vertebrobasilar anastomosis is a rare occurrence with presence of bilateral hypoglossal arteries (HAs) rarer still. We present a case of bilateral persistent HAs with hypoplastic vertebral arteries which end into posterior inferior cerebellar arteries. The computed tomography and magnetic resonance imaging appearance, course, and other associations are discussed. A review of 6 cases of bilateral HA published in the world literature is also discussed.

| S-EPMC6137901 | biostudies-literature

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

Project description:Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson's disease (PD). A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean genetic isolate. We studied 327 consecutive Sardinian patients with clinically diagnosed PD (88 familial, 239 sporadic) and 578 Sardinian controls. One family with FTLD and parkinsonism was also included. The p.Ala382Thr heterozygous mutation was detected in eight unrelated PD patients (2.5%). The three patients from the FTLD/parkinsonism family also carried this mutation. Within the control group, there were three heterozygous mutation carriers. During follow-up, one of these individuals developed motoneuron disease and another, a rapidly progressive dementia; the third remains healthy at the age of 79 but two close relatives developed motoneuron disease and dementia. The eight PD patients carrying the p.Ala382Thr mutation had all sporadic disease presentation. Their average onset age was 70.0 years (SD 9.4, range 51-79), which is later but not significantly different from that of the patients who did not carry this mutation. In conclusion, we expand the clinical spectrum associated with TARDBP mutations to FTLD with parkinsonism without motoneuron disease and to clinically definite PD. The TDP-43 protein might be directly involved in a broader neurodegenerative spectrum, including not only motoneuron disease and FTLD but also PD.

| S-EPMC3158341 | biostudies-literature

The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.

Project description:Primary progressive aphasia (PPA) represents a diverse group of language-led dementias most often due to frontotemporal lobar degeneration. We report clinical, neuropsychological, and neuroimaging data in the case of a 47-year-old woman presenting with non-fluent PPA due to a genetically confirmed pathogenic Presenilin 1 P264L mutation. This case highlights an unusual clinical presentation of familial Alzheimer's disease and a novel presentation of the P264L mutation. The case adds to accumulating evidence that particular mutations can promote specific brain network degeneration, with wider implications for understanding the sporadic forms of Alzheimer's disease and PPA.

| S-EPMC4041608 | biostudies-literature

A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report.

Project description:IntroductionFamilial amyloid polyneuropathy is a rare autosomal dominant disorder caused by mutations in the transthyretin gene, TTR. Diagnosis can be challenging, especially if other family members are not affected or an obvious systemic involvement is lacking. The patients are often misdiagnosed, leading to a delay in the initiation of therapy.Case presentationA 35-year-old woman of Turkish origin presented to our outpatient clinic with severe polyneuropathy associated with distally pronounced tetraparesis and hypesthesia of 2 to 3 years' duration. In addition, small nerve fiber involvement with impaired detection of cold temperatures and tingling pain in the lower legs was reported. She did not complain of autonomic dysfunction or visual disturbance. Her family history was empty regarding neuromuscular disorders. The routine diagnostic work-up was unremarkable. A sural nerve biopsy disclosed amyloid deposits, which led to the identification of a rare heterozygous transthyretin mutation (p.Glu74Gly; old classification: p.Glu54Gly).ConclusionsFew cases with this very heterozygous mutation can be found in the literature. In contrast to the case of our patient, all of the previously described patients in the literature presented with additional severe autonomic symptoms, involvement of the eyes and a positive family history. In this case report, we emphasize that, in patients with progressive neuropathy with small fiber involvement, an amyloid neuropathy should be considered in the differential diagnosis, even if the family history is empty and other organs are not affected.

| S-EPMC4289209 | biostudies-literature

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

Project description: Not available

| S-EPMC1735877 | biostudies-literature

Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.

Project description:Cognitive impairment is a prominent feature in a range of different movement disorders. Children with Alternating Hemiplegia of Childhood are prone to developmental delay, with deficits in cognitive functioning becoming progressively more evident as they grow older. Heterozygous mutations of the ATP1A3 gene, encoding the Na+,K+-ATPase α3 subunit, have been identified as the primary cause of Alternating Hemiplegia. Heterozygous Myshkin mice have an amino acid change (I810N) in Na+,K+-ATPase α3 that is also found in Alternating Hemiplegia. To investigate whether Myshkin mice exhibit learning and memory deficits resembling the cognitive impairments of patients with Alternating Hemiplegia, we subjected them to a range of behavioral tests that interrogate various cognitive domains. Myshkin mice showed impairments in spatial memory, spatial habituation, locomotor habituation, object recognition, social recognition, and trace fear conditioning, as well as in the visible platform version of the Morris water maze. Increasing the duration of training ameliorated the deficit in social recognition but not in spatial habituation. The deficits of Myshkin mice in all of the learning and memory tests used are consistent with the cognitive impairment of the vast majority of AHC patients. These mice could thus help advance our understanding of the underlying neural mechanisms influencing cognitive impairment in patients with ATP1A3-related disorders.

| S-EPMC4655871 | biostudies-literature

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.

Project description: Not available

| S-EPMC4000021 | biostudies-literature

Klebsiella pneumoniae invasive syndrome with liver abscess and purulent meningitis presenting as acute hemiplegia: a case report.

Project description:BackgroundKlebsiella pneumoniae can infect a variety of sites, with the risk of infection being higher in the immunocompromised state such as diabetes mellitus. A distinct invasive syndrome has been detected mostly in Southeast Asia in the past two decades. A common destructive complication is pyogenic liver abscess that can be complicated by metastatic endophthalmitis as well as the involvement of the central nervous system, causing purulent meningitis or brain abscess.Case presentationWe report a rare case of an invasive liver abscess caused by K. pneumoniae, with metastatic infections of meninges. A 68-year-old man with type 2 diabetes mellitus presented to our emergency department as sepsis. Sudden disturbed consciousness was noticed with presentation of acute hemiplegia and gaze preference mimicking a cerebrovascular accident.ConclusionsThe above case adds to the scarce literature on K. pneumoniae invasive syndrome with liver abscess and purulent meningitis. K. pneumoniae is a rare cause of meningitis and should raise suspicions about the disease in febrile individuals. In particular, Asian patients with diabetes presenting with sepsis and hemiplegia prompt a more thorough evaluation with aggressive treatment.

| S-EPMC10259354 | biostudies-literature

Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy.

Project description:•SCA17 should be included in the differential diagnoses of PMEs.•SCA17 is characterized by cerebellar features, myoclonic epilepsy, cognitive decline, psychiatric features, and chorea.•Subtle clinical signs like chorea can provide additional diagnostic clues to SCA17(HDL4), a Huntington disease phenocopy.

| S-EPMC10160684 | biostudies-literature

Progressive dystonia as a presenting manifestation of GM1 gangliosidosis.

Project description: Not available

| S-EPMC8288560 | biostudies-literature