Article
Nutrition & Dietetics
Marius Baguma, Espoir Bwenge Malembaka, Esto Bahizire, Germain Zabaday Mudumbi, Dieudonne Bahati Shamamba, Alain-Narcisse Matabaro, Jean-Michel Rigo, Alfred Kongnyu Njamnshi, Joelle Nsimire Chabwine
Summary: This study compared the nutritional status and cyanide exposure of konzo patients with non-konzo subjects in the Eastern Democratic Republic of the Congo. Results showed that konzo patients had higher prevalence of wasting, stunting, and cyanide poisoning, while controls from Bukavu had the lowest prevalence of risk factors. The study suggests that besides cyanide poisoning, malnutrition may be a key factor in the occurrence of konzo.
Article
Multidisciplinary Sciences
Tobias Lindig, Benjamin Bender, Eva Buerkle, Vinod Kumar, Ulrike Ernemann, Ludger Schoels, Tim W. Rattay
Summary: This study tested the usability of automated data analysis in patients with hereditary spastic paraplegia type 4 (SPG4). The results showed that quantitative imaging reports can serve as easily accessible and fully automatic screening tools for clinicians, providing information about brain regions affected by the disease.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Takuya Morikawa, Hiroaki Ohishi, Kengo Kosaka, Tomofumi Shimojo, Akihiro Nagano, Itsuki Taniguchi, Ryuta Fujioka, Kosei Moriyama, Motoko Unoki, Masatomo Takahashi, Motonao Nakao, Yoshihiro Izumi, Takeshi Bamba, Hiroyuki Sasaki, Shiroh Miura, Hiroki Shibata
Summary: The novel homozygous 4-bp deletion in DDHD1 was identified as responsible for spastic paraplegia type 28 (SPG28). Knockout mice with a premature stop codon similar to the patient showed decreased foot-base angle and reduced LPI 20:4 (sn-2) levels in the cerebra. Changes in gene expression related to nervous system and cell-cell communication were also observed, suggesting a potential role of reduced downstream signaling in the pathogenesis of SPG28.
BIOSCIENCE REPORTS
(2021)
Article
Clinical Neurology
Miren Altuna, Rosa Larumbe, Maria Victoria Zelaya, Sira Moreno, Virginia Garcia-Solaesa, Maite Mendioroz, Maria Antonia Ramos, Maria Elena Erro
Summary: ADAD due to PSEN1 mutations can lead to varied phenotypes within the same family. This study describes three patients from two generations of the same family with movement disorders and progressive cognitive impairment. The findings highlight the importance of considering not only cognitive decline but also movement disorders and epileptic seizures when assessing family history.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Claudia Dosi, Rosa Pasquariello, Chiara Ticci, Guja Astrea, Rosanna Trovato, Anna Rubegni, Alessandra Tessa, Giovanni Cioni, Filippo Maria Santorelli, Roberta Battini
Summary: HSPs are a genetically and clinically diverse group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. MRI can help in excluding mimicking disorders and guiding genetic testing.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Medicine, General & Internal
Sanela Zukic, Ena Topcic, Renata Hodzic, Osman Sinanovic, Mirjana Vidovic
Summary: COVID-19 may lead to immune-related complications, including neurological disorders. This article describes the case of a female patient who developed progressive spastic paraparesis and elevated immunoglobulin levels after COVID-19 infection.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Rehabilitation
Pauline Lallemant-Dudek, Livia Parodi, Giulia Coarelli, Anna Heinzmann, Perrine Charles, Claire Ewenczyk, Silvia Fenu, Marie-Lorraine Monin, Philippe Corcia, Christel Depienne, Fanny Mochel, Jean Benard, Sophie Tezenas du Montcel, Alexandra Durr
Summary: This study aimed to describe the clinical variability in hereditary spastic paraparesis from the person's perspective and identify individual and environmental factors that influence muscle tone disorders and derive interventions which could improve spasticity.
ANNALS OF PHYSICAL AND REHABILITATION MEDICINE
(2023)
Article
Public, Environmental & Occupational Health
Amine Lopes Benevides, Genildes Santana, Katia Nunes Sa
Summary: This study found that spirituality can help people with HAM/TSP cope with disability and pain, which is not limited to religious practices, but also includes emotions and trust in God.
JOURNAL OF RELIGION & HEALTH
(2022)
Article
Clinical Neurology
Ross Pointon, Hannah Whelan, Rushna Raza, Sharron Peacock, Catherine Wilsmore, Andie Mulkeen, John Goodden, Rajib Lodh
Summary: This case series evaluates the use and effectiveness of Intra-thecal Baclofen (ITB) on 5 ambulant children with Hereditary Spastic Paraparesis (HSP). The results suggest that ITB can reduce spasticity, improve quality of life and help patients achieve their personalized goals without major adverse effects.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Pediatrics
Christina Bickley, Katy Mitchell, Allison Scott, Meredith Bury, Mayowa Oyelami
Summary: The study found that the majority of physical therapists were unfamiliar with HSP and had not received training on HSP or its associated gait deviations. However, after receiving brief instruction, diagnostic accuracy increased by 21.7% in the whole group and significant improvement was seen in 14 out of 20 individual cases. This suggests that education on common upper body gait deviations in individuals with HSP can enhance a clinician's ability to differentiate between SD-CP and HSP through gait analysis.
PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS
(2021)
Article
Food Science & Technology
Chen Chen, Esperance Kashala-Abotnes, Jean-Pierre Banea Mayambu, Dieudonne Mumba Ngoyi, Desire Tshala-Katumbay, Daniel Mukeba, Marcel Kunyu, Michael J. Boivin, Felicia Wu
Summary: The 'wetting method' of cassava processing in the Democratic Republic of the Congo has been shown to reduce cyanide levels, prevent neurocognitive impairment, and improve cognitive development in children. Scaling up the use of this method could help prevent neurocognitive impairment in millions of at-risk children in sub-Saharan Africa. The cost-effectiveness of the wetting method in reducing cognitive disability has been assessed in the Democratic Republic of the Congo.
Review
Clinical Neurology
P. Lallemant-Dudek, A. Durr
Summary: Hereditary spastic paraparesis is a group of inherited neurological diseases with wide genetic heterogeneity, characterized by complex etiology and the need for further research on treatment methods. Symptomatic treatments are available but require randomized controlled trials to validate their efficacy.
REVUE NEUROLOGIQUE
(2021)
Article
Genetics & Heredity
Ines A. Cunha, Joana A. Ribeiro, Maria Cj Santos
Summary: In this study, a cohort of 61 HSP patients was described, with most patients presenting with a pure phenotype. 52.4% had a confirmed genetic diagnosis, showing differences between genotypes. Most patients were still able to walk independently and engage in rehabilitation programs.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Review
Clinical Neurology
Silvia Faccioli, Angela Cavalagli, Nicola Falocci, Giulia Mangano, Irene Sanfilippo, Silvia Sassi
Summary: This systematic review examined the gait analysis patterns and interventions for patients with hereditary spastic paraplegias (HSPs). The results revealed that HSP gait patterns are similar to those of cerebral palsy and stroke patients, with specific patterns such as knee hyperextension and reduced range of motion. Botulinum injections improved gait velocity, but also uncovered weakness. Active physical therapy and functional electrical stimulation showed potential for short-term improvements in gait velocity.
FRONTIERS IN NEUROLOGY
(2023)
Article
Genetics & Heredity
Silvia Beatriz Sanchez Marco, Edgar Buhl, Rose Firth, Bangfu Zhu, Mary Gainsborough, Ana Beleza-Meireles, Sandra Moore, Richard Caswell, Karen Stals, Sian Ellard, Cameron Kennedy, James J. L. Hodge, Anirban Majumdar
Summary: Cerebral palsy (CP) is a neurological disability that occurs in early childhood. This study investigates a 16-year-old male with spastic diplegia and identifies a mutation in the ADD3 gene as a possible cause. Using a fruit fly model, the researchers further explore the effects of this mutation on the nervous system.
Article
Immunology
Francisco J. Luquero, Marc Rondy, Jacques Boncy, Andre Munger, Helmi Mekaoui, Ellen Rymshaw, Anne-Laure Page, Brahima Toure, Marie Amelie Degail, Sarala Nicolas, Francesco Grandesso, Maud Ginsbourger, Jonathan Polonsky, Kathryn P. Alberti, Mego Terzian, David Olson, Klaudia Porten, Iza Ciglenecki
EMERGING INFECTIOUS DISEASES
(2016)