Abstract #834: Complete Reversal of Clinical Symptoms and Signs of the Hereditary Spastic Paraplegia Syndrome Following a Short Course of Sympathomimetic Amine Therapy

Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the <i>SPAST</i> gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and neuronal morphogenesis. Herein, we report a patient with SPG4 harboring a novel donor splice site mutation in the <i>SPAST</i> gene (c.1616+1dupG). Although SPG4 usually manifests itself as a pure form of HSP, this patient exhibited a slow progressive cognitive decline and also developed narcolepsy type 2 (narcolepsy without cataplexy) prior to the onset of SPG4. Recently, cognitive decline has attracted attention as a main non-motor symptom of SPG4. However, this is the first reported case of a patient developing both SPG4 and narcolepsy, although it remains unclear whether the manifestation of the two diseases is a coincidence or an association. In this report, we describe the clinical symptoms and genetic background of the patient.

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Further understanding Hereditary Spastic Paraplegia

Nature Middle East ◽

10.1038/nmiddleeast.2009.57 ◽

2009 ◽

Author(s):

Mohammed Yahia

Keyword(s):

Hereditary Spastic Paraplegia ◽

Spastic Paraplegia

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Gait Patterns in Hereditary Spastic Paraplegia

Klinische Neurophysiologie ◽

10.1055/s-2006-939120 ◽

2006 ◽

Vol 37 (01) ◽

Author(s):

L Döderlein ◽

D Metaxiotis ◽

S Wolf ◽

F Braatz

Keyword(s):

Hereditary Spastic Paraplegia ◽

Spastic Paraplegia ◽

Gait Patterns

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SPG10 in German families with hereditary spastic paraplegia

Aktuelle Neurologie ◽

10.1055/s-2006-953109 ◽

2006 ◽

Vol 33 (S 1) ◽

Author(s):

R. Schüle ◽

M. Auer-Grumbach ◽

J. Kassubek ◽

S. Klimpe ◽

T. Klopstock ◽

...

Keyword(s):

Hereditary Spastic Paraplegia ◽

Spastic Paraplegia

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Evolocumab (PCSK9 Inhibitor) in Hereditary Spastic Paraplegia Type 5

SSRN Electronic Journal ◽

10.2139/ssrn.3569873 ◽

2020 ◽

Author(s):

Ying Fu ◽

Xiang Lin ◽

Yi-Jun Chen ◽

Lu-Lu Lai ◽

Yi Lin ◽

...

Keyword(s):

Hereditary Spastic Paraplegia ◽

Spastic Paraplegia ◽

Pcsk9 Inhibitor

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Scoring System for the Diagnosis of COVID-19

The Open Public Health Journal ◽

10.2174/1874944502013010413 ◽

2020 ◽

Vol 13 (1) ◽

pp. 413-414 ◽

Cited By ~ 1

Author(s):

Mohamed Farouk Allam

Keyword(s):

Scoring System ◽

Clinical Symptoms ◽

False Negative ◽

Nasopharyngeal Swab ◽

Rt Pcr ◽

Pcr Assay ◽

Negative Results ◽

False Negative Results ◽

Symptoms And Signs

Due to the international spread of COVID-19, the difficulty of collecting nasopharyngeal swab specimen from all suspected patients, the costs of RT-PCR and CT, and the false negative results of RT-PCR assay in 41% of COVID-19 patients, a scoring system is needed to classify the suspected patients in order to determine the need for follow-up, home isolation, quarantine or the conduction of further investigations. A scoring system is proposed as a diagnostic tool for suspected patients. It includes Epidemiological Evidence of Exposure, Clinical Symptoms and Signs, and Investigations (if available). This scoring system is simple, could be calculated in a few minutes, and incorporates the main possible data/findings of any patient.

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Scrub typhus (Orientia tsutsugamushi), A rapidly spreading epidemic in Chennai - A standalone lab experience

International Journal of Bioassays ◽

10.21746/ijbio.2016.09.0021 ◽

2016 ◽

Vol 5 (09) ◽

pp. 4896

Author(s):

Sripriya C.S.* ◽

Shanthi B. ◽

Arockia Doss S. ◽

Antonie Raj I. ◽

Mohana Priya

Keyword(s):

Scrub Typhus ◽

Clinical Symptoms ◽

Clinical Manifestations ◽

Febrile Illness ◽

Orientia Tsutsugamushi ◽

The Past ◽

Igm Elisa ◽

The Mean ◽

Specific Symptoms ◽

Symptoms And Signs

Scrub typhus (Orientia tsutsugamushi), is a strict intracellular bacterium which is reported to be a recent threat to parts of southern India. There is re-emergence of scrub typhus during the past few years in Chennai. Scrub typhus is an acute febrile illness which generally causes non-specific symptoms and signs. The clinical manifestations of this disease range from sub-clinical disease to organ failure to fatal disease. This study documents our laboratory experience in diagnosis of scrub typhus in patients with fever and suspected clinical symptoms of scrub typhus infection for a period of two years from April 2014 to April 2016 using immunochromatography and IgM ELISA methods. The study was conducted on 648 patients out of whom 188 patients were found to be positive for scrub typhus. Results also showed that pediatric (0 -12 years) and young adults (20 – 39 years) were more exposed to scrub typhus infection and female patients were more infected compared to male. The study also showed that the rate of infection was higher between September to February which also suggested that the infection rate is proportional to the climatic condition. Statistical analysis showed that the mean age of the patients in this study was 37.6, standard deviation was 18.97, CV % was 50.45.

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