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JOURNAL ARTICLE
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
BACKGROUND: Phenotypic variability is a consistent finding in neurogenetics and therefore applicable to hereditary spastic paraparesis. Identifying reasons for this variability is a challenge. We hypothesized that, in addition to genetic modifiers, extrinsic factors influence variability. OBJECTIVES: Our aim was to describe the clinical variability in hereditary spastic paraparesis from the person's perspective. Our goals were to identify individual and environmental factors that influence muscle tone disorders and derive interventions which could improve spasticity...
April 5, 2023: Annals of Physical and Rehabilitation Medicine
#22
Ayush Agarwal, Rahul Oinam, Vinay Goel, Pooja Sharma, Mohd Faruq, Ajay Garg, Achal K Srivastava
BACKGROUND: Hereditary Spastic Paraparesis ( HSP) are a group of genetically inherited disorders, clinically and genetically heterogenous and characterized by degeneration of corticospinal tracts, manifesting with progressive spasticity and lower limbs weakness. Most HSPs have an autosomal dominant inheritance. "Ear of the Lynx" sign describes the characteristic abnormality in the forceps minor region of the corpus callosum (CC) on MRI brain. These bear a striking resemblance to the ears of a lynx...
January 2023: Movement Disorders Clinical Practice
#23
JOURNAL ARTICLE
Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch
BACKGROUND AND OBJECTIVES: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of rare neurodegenerative diseases, characterized by a progressive spastic paraparesis. Currently, there is a HSP-specific clinician-reported outcome measure (CROM) called Spastic Paraplegia Rating Scale (SPRS). There are, however, no specific patient-reported outcome measures (PROMs) for HSP. In the present cohort study, we prospectively follow up a well-examined Austrian HSP cohort using validated rating scales and compared PROM with disease-specific and non-disease-specific CROM...
February 2023: Neurology. Genetics
#24
JOURNAL ARTICLE
Avaneesh R Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari
OBJECTIVE: Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a presentation of Prader-Willi syndrome (PWS) and progressive neurologic symptoms was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed. METHODS: A combination of clinical, molecular, and imaging data was included in this study. RESULTS: We present the case of a 12-year-old boy with a blended phenotype of PWS and hereditary spastic paraplegia type 11 (HSP- SPG11 ) caused by maternal uniparental isodisomy of chromosome 15 (UPiD(15)mat) covering a loss-of-function variant in SPG11 (NM_025137...
December 2022: Neurology. Genetics
#25
JOURNAL ARTICLE
Christoph Kessler, Christoph Ruschil, Ahmed Abdelhak, Carlo Wilke, Aleksandra Maleska, Jens Kuhle, Markus Krumbholz, Markus C Kowarik, Rebecca Schüle
In patients with slowly progressive spastic paraparesis, the differential diagnosis of primary progressive multiple sclerosis (PPMS) and hereditary spastic paraplegia (HSP) can be challenging. Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) are promising fluid biomarkers to support the diagnostic workup. Serum NfL is a marker of neuroaxonal decay sensitive to temporal changes, while elevated sGFAP levels may reflect astrocytal involvement in PPMS. We assessed sNfL and sGFAP levels in 25 patients with PPMS, 25 patients with SPG4 (the most common type of HSP) and 60 controls, using the highly sensitive single-molecule array (Simoa) platform...
November 3, 2022: International Journal of Molecular Sciences
#26
JOURNAL ARTICLE
Min-Yu Lan, Chin-Song Lu, Shey-Lin Wu, Ying-Fa Chen, Yueh-Feng Sung, Min-Chien Tu, Yung-Yee Chang
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders clinically characterized by progressive lower-limb spasticity. Cerebellar ataxia commonly co-occurs with complicated HSPs. HSP with concurrent cerebellar ataxia has significant clinical and genetic overlaps with hereditary cerebellar ataxia (HCA) and other inherited neurological diseases, adding to the challenge of planning genetic testing for the disease. In this study, we characterized clinical features of a cohort of 24 patients (male/female: 15/9) from 22 families who presented spastic paraparesis combined with cerebellar involvement, with a median disease onset age 20...
2022: Frontiers in Neurology
#27
JOURNAL ARTICLE
Kiruthiga Sugumar, Aakash Chandran Chidambaram, Jaikumar Govindaswamy Ramamoorthy, Tamil Selvan
No abstract text is available yet for this article.
July 2022: Annals of Indian Academy of Neurology
#28
JOURNAL ARTICLE
Fernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, Anderson Rodrigues Brandáo de Paiva, Bruno Della-Ripa, Paulina Cunha, Lúcia Inês Macedo-Souza, Clarissa Bueno, David S Lynch, Henry Houlden, Leandro Tavares Lucato, Fernando Kok
INTRODUCTION: Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder characterized by lower limb spasticity. This study presents 7 patients with arginase 1 deficiency from 6 different families, all with an initial diagnosis of complicated HSP...
September 30, 2022: Cold Spring Harbor Molecular Case Studies
#29
JOURNAL ARTICLE
Jennifer L Peotter, Iryna Pustova, Molly M Lettman, Shalini Shatadal, Mazdak M Bradberry, Allison D Winter-Reed, Maya Charan, Erin E Sharkey, James R Alvin, Alyssa M Bren, Annika K Oie, Edwin R Chapman, M Shahriar Salamat, Anjon Audhya
Molecular pathways that intrinsically regulate neuronal maintenance are poorly understood, but rare pathogenic mutations that underlie neurodegenerative disease can offer important insights into the mechanisms that facilitate lifelong neuronal function. Here, we leverage a rat model to demonstrate directly that the TFG p.R106C variant implicated previously in complicated forms of hereditary spastic paraplegia (HSP) underlies progressive spastic paraparesis with accompanying ventriculomegaly and thinning of the corpus callosum, consistent with disease phenotypes identified in adolescent patients...
October 4, 2022: Proceedings of the National Academy of Sciences of the United States of America
#30
JOURNAL ARTICLE
Isabell Cordts, Luisa Semmler, Jannik Prasuhn, Annette Seibt, Diran Herebian, Tharsini Navaratnarajah, Joohyun Park, Natalie Deininger, Lucia Laugwitz, Sophia L Göricke, Paul Lingor, Norbert Brüggemann, Alexander Münchau, Matthis Synofzik, Dagmar Timmann, Johannes A Mayr, Tobias B Haack, Felix Distelmaier, Marcus Deschauer
BACKGROUND: COQ4 codes for a mitochondrial protein required for coenzyme Q10 (CoQ10 ) biosynthesis. Autosomal recessive COQ4-associated CoQ10 deficiency leads to an early-onset mitochondrial multi-organ disorder. METHODS: In-house exome and genome datasets (n = 14,303) were screened for patients with bi-allelic variants in COQ4. Work-up included clinical characterization and functional studies in patient-derived cell lines. RESULTS: Six different COQ4 variants, three of them novel, were identified in six adult patients from four different families...
October 2022: Movement Disorders: Official Journal of the Movement Disorder Society
#31
JOURNAL ARTICLE
Silvia Beatriz Sanchez Marco, Edgar Buhl, Rosie Firth, Bangfu Zhu, Mary Gainsborough, Ana Beleza-Meireles, Sandra Moore, Richard Caswell, Karen Stals, Sian Ellard, Cameron Kennedy, James J L Hodge, Anirban Majumdar
INTRODUCTION: Cerebral palsy (CP) causes neurological disability in early childhood. Hypoxic-ischaemic injury plays a major role in its aetiology, nevertheless, genetic and epigenetic factors may contribute to the clinical presentation. Mutations in ADD3 (encoding γ-adducin) gene have been described in a monogenic form of spastic quadriplegic cerebral palsy (OMIM 601568). METHODS: We studied a sixteen-year-old male with spastic diplegia. Several investigations including neurometabolic testing, brain and spine magnetic resonance imaging (MRI) and CGH-Array were normal...
August 31, 2022: Clinical Genetics
#32
REVIEW
PLA2G6-associated neurodegeneration in four different populations-case series and literature review.
Rana Hanna Al-Shaikh, Lukasz M Milanowski, Vikram V Holla, Kanako Kurihara, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Anikha Bellad, Dariusz Koziorowski, Stanislaw Szlufik, Dorota Hoffman-Zacharska, Shinsuke Fujioka, Yoshio Tsuboi, Owen A Ross, Klaas Wierenga, Ryan J Uitti, Zbigniew Wszolek, Pramod Kumar Pal
BACKGROUND: PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, and adult-onset dystonia parkinsonism [1]. It is elicited by a biallelic pathogenic variant in phospholipase A2 group VI (PLA2G6) gene. In this study we describe new cases and provide a comprehensive review of previously published cases. METHODS: Eleven patients, from four different institutions and four different countries...
August 2022: Parkinsonism & related Disorders
#33
JOURNAL ARTICLE
Pachipala Sudheer, Ayush Agarwal, Ajay Garg, M V Padma Srivastava, Venugopalan Y Vishnu
No abstract text is available yet for this article.
March 2022: Annals of Indian Academy of Neurology
#34
REVIEW
Francesco Gentile, Alessandro Bertini, Alberto Priori, Tommaso Bocci
Movement disorders as well as peripheral neuropathies are extremely frequent in the general population; therefore, it is not uncommon to encounter patients with both these conditions. Often, the coexistence is coincidental, due to the high incidence of common causes of peripheral neuropathy, such as diabetes and other age-related disorders, as well as of Parkinson disease (PD), which has a typical late onset. Nonetheless, there is broad evidence that PD patients may commonly develop a sensory and/or autonomic polyneuropathy, triggered by intrinsic and/or extrinsic mechanisms...
September 2022: Journal of Neurology
#35
JOURNAL ARTICLE
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, V Reid Sutton, Lisa T Emrick, Kym M Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W Saadi, Maha S Zaki, Arjan Bouman, Tahsin Stefan Barakat, David L Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh-Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Abbas Al-Sannaa, Giovanni Zifarelli, Peter Bauer, Simon Robson, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Michael C Kruer, Kristin D Kernohan, Jonas A Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H Elsea, Davut Pehlivan, Dana Marafi, James R Lupski
OBJECTIVE: Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia (HSP) is associated with over 80 genes with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of individuals with biallelic variation in ENTPD1, a gene previously linked to spastic paraplegia 64 (MIM# 615683). METHODS: Individuals with biallelic ENTPD1 variants were recruited worldwide...
April 26, 2022: Annals of Neurology
#36
JOURNAL ARTICLE
Li Chen, Hanjie Wang, Shuhan Cha, Jiong Li, Jiaqi Zhang, Jiaming Wu, Guoqing Guo, Jifeng Zhang
Synaptic plasticity is essential for cognitive functions such as learning and memory. One of the mechanisms involved in synaptic plasticity is the dynamic delivery of AMPA receptors (AMPARs) in and out of synapses. Mutations of SPAST , which encodes SPASTIN, a microtubule-severing protein, are considered the most common cause of hereditary spastic paraparesis (HSP). In some cases, patients with HSP also manifest cognitive impairment. In addition, mice with Spastin depletion exhibit working and associative memory deficits and reduced AMPAR levels...
2022: Frontiers in Cellular Neuroscience
#37
JOURNAL ARTICLE
Inês A Cunha, Joana A Ribeiro, Maria Cj Santos
INTRODUCTION: Hereditary spastic paraplegias (HSP) are inherited disorders with progressive spastic gait disturbance. Advances in genetic research have improved their diagnosis but there is great uncertainty regarding the appropriate investigation strategies for HSPs. Our aim is to characterize a cohort of HSP, describing the phenotypic spectrum, genotype-specific differences and current functional status. METHODS: We performed a cross-sectional study with HSP affected patients in a tertiary center...
March 2022: European Journal of Medical Genetics
#38
REVIEW
Eliane Chouery, Cybel Mehawej, Andre Megarbane
Hereditary spastic paraplegia (HSP) refers to a group of genetic disorders characterized by progressive weakness and stiffness in the muscles of the legs. To date, more than 83 types of HSP exist, differing in their etiology, their degree of severity, and the nature of symptoms associated with each of these conditions. Owing to their genetic and clinical heterogeneity, the establishment of an accurate diagnosis can be very challenging, especially with the clinical overlap observed between those conditions and other neurogenetic diseases...
April 2022: Neurogenetics
#39
JOURNAL ARTICLE
Ali Eltoum, Declan O'Rourke, Farhana Sharif
A 3½-year-old girl, presented with delayed motor development and increased tone in lower limbs along with tight tendoachilles, toe walking and bilateral clonus. There were normal antenatal and perinatal period, however, after birth there was twitching of her lower limbs. Examination showed lower limb spasticity.Brain and spinal MRI along with EEG were normal. Serum amino acids revealed hyperprolinemia type 1. Hereditary spastic paraplegia gene panel confirmed a homozygous pathogenic variant in ALS2 gene, confirming a diagnosis of infantile onset ascending hereditary spastic paraparesis...
January 17, 2022: BMJ Case Reports
#40
JOURNAL ARTICLE
Amita Moirangthem, Deepti Saxena, Suzena Masih, Arya Shambhavi, Mayank Nilay, Shubha R Phadke
Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in MTHFR. We report six subjects with MTHFR deficiency who presented with variable neurological phenotypes which could be viewed as a continuous spectrum. Fatal infantile encephalopathy was observed in one family, whereas another patient presented at 27 years with acute leukoencephalopathy and recovered within 3 months...
November 29, 2021: Clinical Dysmorphology
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