A strong male bias was present in the C9-negative group only. A family history of FTD or ALS was recorded in both groups, but was significantly more common in C9-positive cases. [ncbi.nlm.nih.gov]

Diagnosis The most recent work on diagnosing ALS (Strong, 2017) recognizes a wide spectrum of ALS presentations. [theaftd.org]

Acronym ALS22 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Difficulty Walking

  In addition to changes in behavior, personality and language skills that characterize FTD, people with ALS and FTD also have difficulty walking, standing, using their hands, speaking, swallowing, or breathing. [theaftd.org]

  Progressive supranuclear palsy (PSP), which causes muscle stiffness, difficulty walking and changes in posture. It also affects eye movements. [alz.org]

• Unable to Stand

  The ALS features of the disorder eventually render patients unable to stand, walk, get in or out of bed on their own, or use their hands and arms. [theaftd.org]

• Pallor

  The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. [uniprot.org]

• Fishing

  C9orf72 and Other Novel Genes Implicated in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Fluorescence in situ hybridization (FISH) of c9FTD/ALS. [mayo.edu]

• Malnutrition

  This can lead to malnutrition. Diagnosis The most recent work on diagnosing ALS (Strong, 2017) recognizes a wide spectrum of ALS presentations. [theaftd.org]

• Sighing

  “um”, “er”), and non-speech vocalizations such as coughing, laughing or sighing. Misread words were included in the analyses without any editing. [journals.plos.org]

• Respiratory Abnormalities

  Respiratory abnormalities explained the greatest variability in % time spent pausing, average duration of a speech phrase, and the coefficient of variation of phrase duration. [journals.plos.org]

• Choking

  Symptoms include drooling and choking on food or saliva. This can lead to malnutrition. Diagnosis The most recent work on diagnosing ALS (Strong, 2017) recognizes a wide spectrum of ALS presentations. [theaftd.org]

• Hearing Impairment

  Abstract Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy, and hearing impairment [ncbi.nlm.nih.gov]

• Suggestibility

  It is now suggested that ALS and FTD are closely related conditions with overlapping clinical, pathological, radiological, and genetic characteristics. [ncbi.nlm.nih.gov]

  Genetic studies now suggest that this repeat expansion is the most common cause of familial FTD and ALS, causing 25 percent of familial FTD cases, 30 percent of familial ALS cases and 1 to 5 percent of sporadic cases. [mayo.edu]

  The findings also suggest that motor speech assessment should be performed as part of the diagnostic workup for patients with FTD. [journals.plos.org]

• Psychiatric Symptoms

  The presence of psychiatric symptoms in the context of FTD-ALS should alert clinicians to the possibility of C9orf72 expansions. [ncbi.nlm.nih.gov]

• Motor Symptoms

  Conversely, up to 30% of people diagnosed with FTD develop motor symptoms consistent with ALS. [theaftd.org]

  Importantly, the superior cerebellum has been implicated in classic cerebellar motor symptoms such as ataxia [70]. [journals.plos.org]

  While an ALS diagnosis requires only motor symptoms, prior studies have indicated that 8 to 15 percent of people with the condition also suffer from dementia, and that many more have milder problems with thinking or behavior (see Related Papers, below [alzforum.org]

• Clumsiness

  Examples include: Weakness in legs can lead to tripping and falls Difficulty grasping a pen or cup Difficulty lifting arms above the head Clumsiness when carrying out fine motor movements with hands or fingers (e.g. those needed to type, button a shirt [theaftd.org]

• Slurred Speech

  Dysarthria Slow, slurred speech, due to an inability to move the mouth and facial muscles. Dysphagia The inability to swallow. Symptoms include drooling and choking on food or saliva. This can lead to malnutrition. [theaftd.org]

The findings also suggest that motor speech assessment should be performed as part of the diagnostic workup for patients with FTD. [journals.plos.org]

Treatment, Management and What to Expect There is no cure for ALS or FTD. Riluzole, the first drug approved for use in the treatment of ALS, has been shown to slow the progression of ALS for some patients and increase survival. [theaftd.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Dementia in ALS Treatment Treatment of dementia in ALS and other motor neuron diseases focuses on relieving symptoms. Medications for Dementia in ALS No specific treatment is available for frontal lobe dementia in motor neuron disease. [emedicinehealth.com]

Proceedings Go to 2006 A single case study of primary progressive aphasia: progressive improvement in verb production after rTMS treatment. [unipa.it]

In ALS, metabolic changes have been linked to disease progression and prognosis. [repository.cam.ac.uk]

Background: Given the poor prognosis in FTD patients who develop ALS and their need for additional care and medical services, it is important to identify those patients at an early stage. [neurology.org]

Progression to FTD-ALS was significantly more frequent in patients with bvFTD PNFA compared to those without this phenotype (p Keywords: Amyotrophic lateral sclerosis, disease progression, frontotemporal dementia, incidence, primary progressive aphasia, prognosis [content.iospress.com]

A dual ALS-FTD diagnosis also means a poorer prognosis ( Elamin et al., 2013 ). Dementia symptoms should also be evaluated in clinical trials, Murphy said. For one, neurodegeneration in the brain might affect response to a treatment. [alzforum.org]

[…] results in dysphagia, the risk of aspiration pneumonia, and mutism Muscular wasting and weakness may occur Parkinsonism may develop in some patients Dyspnea and hypoxic encephalopathy may be related positionally and can interfere with reclining for sleep Prognosis [emedicine.medscape.com]

The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia. [uniprot.org]

Guamanian amyotrophic lateral sclerosis associated with dementia seems to differ from dementia associated with sporadic or familial types of amyotrophic lateral sclerosis in etiology and pathology. [medlink.com]

Motor neuron disease is similar to dementia, in that its etiology is heterogeneous, according to Dr. McKee, who is also Director of Neuropathology for the New England Veterans Health Care System. [mdedge.com]

The diagnosis and understanding of apraxia of speech: Why including neurodegenerative etiologies may be important. Journal of Speech, Language, and Hearing Research, 55(5), S1518-S1522. doi: 10.1044/1092-4388(2012/11-0309). Duffy, J. R., Strand, E. [infad.eu]

Etiology Worldwide, frontotemporal lobe dementia with motor neuron disease (FTD/MND) is a sporadic condition with an unknown etiology. [emedicine.medscape.com]

Features include: In-depth reviews, Original research, Basic science, Epidemiology, Clinical trials, Care issues, Ethics and legal issues, Health economics, Case reports, Point-Counterpoint debate, Correspondence, Book reviews, ALS centre reports. [journalsandcongresses.pubshub.com]

Emerging evidence from epidemiological, clinical, pathological, and experimental studies emphasises a range of changes in eating behaviours and metabolism in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). [repository.cam.ac.uk]

Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J Neurol Neurosurg Psychiatry. 2008;79:6–11. CrossRef PubMed Google Scholar 32. Gordon PH. [link.springer.com]

D. (2002) Taxonomy and epidemiology of spinal cord injury pain. In: Yezierski, R.P. and Burchiel, K. (eds.) [shiga-med.ac.jp]

This would enable larger epidemiologic studies, he said, since scientists could reach people who cannot come to an ALS center for face-to-face evaluation. [alzforum.org]

Objective: In present study, comparative in silico analysis was performed by utilizing gene expression datasets of AD, PD, FTD and ALS to identify potential common features to gain insights into complex molecular pathophysiology of the selected NDs. [eurekaselect.com]

This project should contribute for identifying the molecular basis of this devastating disorder with practical consequences for genetic counselling in ALS-FTD families, and with the perspective of elucidating the pathophysiology of this disorder. [clinicaltrials.gov]

[…] in Pathophysiology II University of Tsukuba. 2018-04 -- 2018-08 Seminar in Clinical Pathophysiology I University of Tsukuba. 2018-04 -- 2018-08 Lecture and Discussion in Clinical Pathophysiology I University of Tsukuba. 2018-04 -- 2018-08 Practice in [trios.tsukuba.ac.jp]

Amyotrophic lateral sclerosis: pathophysiology, diagnosis and management. CNS Drugs. 2011;25:1–15. CrossRef PubMed Google Scholar 33. Smith BN, Newhouse S, Shatunov A, et al. [link.springer.com]

Pathophysiological and diagnostic implications of cortical dysfunction in ALS. Nat Rev Neurol. 2016 Nov. 12 (11):651-661. [Medline]. Steele JC, McGeer PL. The ALS/PDC syndrome of Guam and the cycad hypothesis. Neurology. 2008 May 20. 70(21):1984-90. [emedicine.medscape.com]

In expanding upon a commitment to understanding the causes of such diseases, he emphasizes translational research geared toward identifying and developing therapies for treatment and prevention. [asuevents.asu.edu]

Evaluation of many of the TBK1 missense mutations found in patients with ALS or FTD is prevented by missing data demonstrating cosegregation of the variants and incomplete knowledge about the TBK1 functions relevant for neurodegeneration. [umu.diva-portal.org]

Prevention of Dementia in ALS There is no known way to prevent motor neuron disease or the dementia that goes along with it. This is an area of intense research in motor neuron diseases. [emedicinehealth.com]

Prevention of Dementia and ALS There is no known way to prevent ALS or the dementia that may be seen with it. This is an area of intense research in motor neuron diseases. [webmd.com]