First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea

ABSTRACT The occurrence of dementia in amyotrophic lateral sclerosis (ALS) was only widely recognized in the late 20th century. Hitherto, it was believed that dementia was a rare event due to the fortuitous association with other diseases. In 1924, Kostantin Nikolaevich Tretiakoff and Moacyr de Freitas Amorim reported a case of dementia with features of frontotemporal dementia (FTD) that preceded the motor signs of ALS. Neuropathological examination confirmed ALS and found no signs of other dementia-causing diseases. The authors hypothesized that dementia was part of ALS and recommended the search for signs of involvement of motor neurons in cases of dementia with an ill-defined clinical picture, a practice currently accepted in the investigation of cases of FTD. This was one of the first descriptions of dementia preceding the motor impairments of ALS and was published in Portuguese and French in Memórias do Hospício de Juquery.

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4-12-04 Dementia of frontal lobe type (DFLT) associated with amyotrophic lateral sclerosis (ALS). First case reported in Cuba

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(97)85977-1 ◽

1997 ◽

Vol 150 ◽

pp. S227

Author(s):

N. Perez-Lache ◽

C. Sánchez Catasús ◽

H. Vega

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Frontal Lobe ◽

First Case ◽

Lateral Sclerosis

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Is Lesion of Exner’s Area Linked to Progressive Agraphia in Amyotrophic Lateral Sclerosis with Dementia? An Autopsy Case Report

Behavioural Neurology ◽

10.1155/2010/146912 ◽

2010 ◽

Vol 23 (3) ◽

pp. 153-158 ◽

Cited By ~ 9

Author(s):

Kenji Ishihara ◽

Hiroo Ichikawa ◽

Yoshio Suzuki ◽

Jun’ichi Shiota ◽

Imaharu Nakano ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Brain Lesion ◽

Intimate Relationship ◽

Autopsy Case ◽

First Case ◽

Neuropsychological Symptoms ◽

The Brain ◽

Caudal Area ◽

Left Middle ◽

Lateral Sclerosis

Agraphia, as a neuropsychological symptom of ALS, especially ALS with dementia (ALS-D), has recently attracted more attention. However, the brain lesion responsible has not been identified. Here we present an autopsy case of ALS-D of a patient with obvious agraphia, without aphasia, that also presented cerebrospinal degeneration with TDP-43-pathology compatible with ALS-D. Of the pre-motor frontal lobe cortices, degeneration and immuno-histochemical pathology were most obvious in the caudal area of the left middle frontal gyrus, or Exner’s area. Assuring this area plays a pivotal role in the kanji and kana formation used in writing the Japanese language, this case of ALS-D showed both agraphia and Exner's area stressed pathological lesions. It may thus be the first case to indicate an intimate relationship between the neuropsychological symptoms and an associated lesion for ALS-D.

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Pressure ulcers and Charcot's definitions: report on two cases

Sao Paulo Medical Journal ◽

10.1590/s1516-31802008000400005 ◽

2008 ◽

Vol 126 (4) ◽

pp. 223-224 ◽

Cited By ~ 1

Author(s):

Hélio Afonso Ghizoni Teive ◽

Ricardo William Genaro Rodrigues de Campos ◽

Renato Puppi Munhoz ◽

Lineu César Werneck

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Pressure Ulcers ◽

Case Reports ◽

Vegetative State ◽

Persistent Vegetative State ◽

Connective Tissues ◽

First Case ◽

Neurological Patients ◽

Developed Pressure ◽

Lateral Sclerosis

CONTEXT AND OBJECTIVE: Pressure ulcers are lesions caused by inadequate blood flow and tissue malnourishment secondary to prolonged pressure on skin, soft connective tissues, muscle and/or bones. The authors report two distinct clinical situations of severely compromised neurological patients who shared several predisposing factors for pressure ulcers, but with opposite outcomes regarding the development of pressure ulcers. CASE REPORTS: The first case was a young patient in a persistent vegetative state who developed pressure ulcers that resulted in secondary sepsis and death. The second case was a patient with a diagnosis of amyotrophic lateral sclerosis who, in spite of being bedridden for several months with severe immobility, never developed pressure ulcers. These intriguing contrary clinical situations had already been defined by Charcot in the nineteenth century, with his creation of the expression "decubitus ominosus". He indicated that patients with amyotrophic lateral sclerosis usually did not develop this form of complication, as was illustrated by the cases presented here.

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S-Nitrosoglutathione Reductase Plays Opposite Roles in SH-SY5Y Models of Parkinson’s Disease and Amyotrophic Lateral Sclerosis

Mediators of Inflammation ◽

10.1155/2015/536238 ◽

2015 ◽

Vol 2015 ◽

pp. 1-12 ◽

Cited By ~ 10

Author(s):

Salvatore Rizza ◽

Claudia Cirotti ◽

Costanza Montagna ◽

Simone Cardaci ◽

Claudia Consales ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Amyotrophic Lateral Sclerosis ◽

Nuclear Compartment ◽

Neuronal Viability ◽

First Case ◽

Nrf2 Activation ◽

G93a Sod1 ◽

Lateral Sclerosis

Oxidative and nitrosative stresses have been reported as detrimental phenomena concurring to the onset of several neurodegenerative diseases. Here we reported that the ectopic modulation of the denitrosylating enzymeS-nitrosoglutathione reductase (GSNOR) differently impinges on the phenotype of two SH-SY5Y-basedin vitromodels of neurodegeneration, namely, Parkinson’s disease (PD) and familial amyotrophic lateral sclerosis (fALS). In particular, we provide evidence that GSNOR-knocking down protects SH-SY5Y against PD toxins, while, by contrast, its upregulation is required for G93A-SOD1 expressing cells resistance to NO-releasing drugs. Although completely opposite, both conditions are characterized by Nrf2 localization in the nuclear compartment: in the first case induced by GSNOR silencing, while in the second one underlying the antinitrosative response. Overall, our results demonstrate that GSNOR expression has different effect on neuronal viability in dependence on the stimulus applied and suggest that GSNOR could be a responsive gene downstream of Nrf2 activation.

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Automated Acoustic Analysis of Oral Diadochokinesis to Assess Bulbar Motor Involvement in Amyotrophic Lateral Sclerosis

Journal of Speech Language and Hearing Research ◽

10.1044/2019_jslhr-19-00178 ◽

2020 ◽

Vol 63 (1) ◽

pp. 59-73 ◽

Cited By ~ 3

Author(s):

Panying Rong

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Acoustic Analysis ◽

Speaking Rate ◽

Disease Stage ◽

Healthy Controls ◽

Tongue Movement ◽

Major Barrier ◽

Syllable Repetition ◽

Oral Diadochokinesis ◽

Lateral Sclerosis

Purpose The purpose of this article was to validate a novel acoustic analysis of oral diadochokinesis (DDK) in assessing bulbar motor involvement in amyotrophic lateral sclerosis (ALS). Method An automated acoustic DDK analysis was developed, which filtered out the voice features and extracted the envelope of the acoustic waveform reflecting the temporal pattern of syllable repetitions during an oral DDK task (i.e., repetitions of /tɑ/ at the maximum rate on 1 breath). Cycle-to-cycle temporal variability (cTV) of envelope fluctuations and syllable repetition rate (sylRate) were derived from the envelope and validated against 2 kinematic measures, which are tongue movement jitter (movJitter) and alternating tongue movement rate (AMR) during the DDK task, in 16 individuals with bulbar ALS and 18 healthy controls. After the validation, cTV, sylRate, movJitter, and AMR, along with an established clinical speech measure, that is, speaking rate (SR), were compared in their ability to (a) differentiate individuals with ALS from healthy controls and (b) detect early-stage bulbar declines in ALS. Results cTV and sylRate were significantly correlated with movJitter and AMR, respectively, across individuals with ALS and healthy controls, confirming the validity of the acoustic DDK analysis in extracting the temporal DDK pattern. Among all the acoustic and kinematic DDK measures, cTV showed the highest diagnostic accuracy (i.e., 0.87) with 80% sensitivity and 94% specificity in differentiating individuals with ALS from healthy controls, which outperformed the SR measure. Moreover, cTV showed a large increase during the early disease stage, which preceded the decline of SR. Conclusions This study provided preliminary validation of a novel automated acoustic DDK analysis in extracting a useful measure, namely, cTV, for early detection of bulbar ALS. This analysis overcame a major barrier in the existing acoustic DDK analysis, which is continuous voicing between syllables that interferes with syllable structures. This approach has potential clinical applications as a novel bulbar assessment.

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