Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria

AbstractCombined homocysteinemia with methylmalonic aciduria (MMA/HCY) are genetic disorders of intracellular cobalamin (cbl) transport and processing that cause downstream deficiencies in methylcobalamin and adenosylcobalamin. Untreated disease is characterized biochemically by methylmalonic aciduria and hyperhomocysteinemia, while the clinical features are variable. When spastic paraplegia (SP) dominates, it is difficult to differentiate from hereditary spastic paraplegia (HSP). Clinical, biochemical and imaging features were reviewed in eight patients with MMA/HCY that mimicked HSP. Seven males and one female were enrolled. The median onset age was 13  years old (range 7–26 years old). The median time delay of diagnosis was 20.5 months (range 2–60 months). Spastic gait was the first symptom in four patients, while the other four patients presented with chronic emotional abnormalities or cognitive impairment. The main clinical manifestatio n was SP, and other neurological symptoms included cognitive impairment (5/8), spastic dysuria (3/8), personality change and depression (3/8), ataxia (2/8), seizures (2/8), limb numbness (2/8), and developmental delay (2/8). When patients were diagnosed, the mean serum homocysteine level, the methyl malonic acid level in urine, the serum propionylcarnitine (C3) level and the ratios ofC3-to-acetylcarnitine (C2) and free carnitine (C0) were all dramatically elevated. Cranial MRIs showed nothing remarkable exc...
Source: Journal of Neurology - Category: Neurology Source Type: research

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ConclusionsAll physicians should be aware of the toxic effects of eucalyptus oil, which is used often in daily life in India. Supportive care in an intensive care unit, including rapid correction of metabolic acidosis and adequate maintenance of hemodynamic parameters, will lead to a rapid recovery. Warning labels should be made mandatory on all products that contain eucalyptus oil.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Abstract Autoimmune encephalitides, with an estimated incidence of 1.5 per million population per year, although described only 15 years ago, have already had a remarkable impact in neurology and paved the field to autoimmune neuropsychiatry. Many patients traditionally presented with aberrant behavior, especially of acute or subacute onset, and treated with anti-psychotic therapies, turn out to have a CNS autoimmune disease with pathogenic autoantibodies against synaptic antigens responding to immunotherapies. The review describes the clinical spectrum of these disorders, and the pathogenetic role of key autoanti...
Source: Journal of Autoimmunity - Category: Allergy & Immunology Authors: Tags: J Autoimmun Source Type: research
PURPOSE: Friedreich ataxia (FRDA) is a chronic, progressive and highly disabling cerebellar degenerative disease. Despite this, little attention has been paid to the health-related quality of life (HRQOL) in this disease. The aim of the present study was t...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
Publication date: Available online 17 September 2019Source: Journal of Clinical NeuroscienceAuthor(s): Adriana Moro, Renato Puppi Munhoz, Carlos Henrique Camargo, Mariana Moscovich, Marina Farah, Hélio A.G. TeiveAbstractSpinocerebellar ataxia type 10 (SCA10) is a rare dominantly inherited neurodegenerative disorder characterized by cerebellar ataxia, dysarthria, ocular dysmetria, and seizures in some populations. Fatigue has been described in SCA1, SCA3, but has not been objectively investigated in SCA10. Our aim is to investigate the presence and related causal factors of fatigue among SCA10 patients. Twenty-eight ...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
ConclusionsParkinsonism, dystonia, and cognitive ‐psychiatric symptoms are common features in patients with SCA mutations in our population. Our study identifies a different clinical spectrum of SCA1, SCA2, SCA3, SCA6, and SCA17 compared to Caucasians.
Source: Brain and Behavior - Category: Neurology Authors: Tags: ORIGINAL RESEARCH Source Type: research
Authors: Bowman A, Ayyangar R, Gonzales I, Hornyak J Abstract A 9-year old male patient with a past medical history of congenital cytomegalovirus (CMV) infection and spastic quadriplegic cerebral palsy with an intrathecal baclofen pump was admitted to a tertiary care hospital with respiratory depression and unresponsiveness for approximately two days. He had a recent two-week hospital stay for respiratory failure due to pneumonia. After being prescribed antibiotics and being sent home, he had developed copious diarrhea. On readmission, he was found to be dehydrated and in acute renal failure. A physical exam reveal...
Source: Journal of Pediatric Rehabilitation Medicine - Category: Rehabilitation Tags: J Pediatr Rehabil Med Source Type: research
AbstractPolyneuropathy associated with monoclonal gammopathy of undetermined significance (MGUS-PNP) has a chronic and slowly progressive course but can lead to significant disability and reduced quality of life (QoL). The aim of this study was to analyze QoL in MGUS-PNP patients and to determine its predictors. Our study included 51 patients diagnosed with MGUS-PNP (23.5% with IgM, 66.7% IgG or IgA, 7.8% undetermined paraprotein, 2.0% light chains). QoL was assessed using the SF-36 questionnaire. The Medical Research Council Sum Score (MRC-SS), INCAT disability and sensory scores, ataxia score, Krupp ’s Fatigue Seve...
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research
Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Marco Vacante1, Antonio Biondi1, Francesco Basile1, Roberto Ciuni1, Salvatore Luca1, Salomone Di Saverio2, Carola Buscemi3, Enzo Saretto Dante Vicari3 and Antonio Maria Borzì3* 1Department of General Surgery and Medical-Surgical Specialties, University of Catania, Catania, Italy 2Cambridge Colorectal Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom 3Department of Clinical and Experimental Medicine, Specialization School in Geriatrics, University of Catania, Catania, Italy There is a high prevalence of hypothyroidism in the elderly population, mainly among women. The mo...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
ConclusionsDifferent patterns of sleep disturbances are observed in HD patients: insomnia, difficulties in falling asleep, frequent nocturnal awakenings, and excessive daytime sleepiness are the most common sleep problems reported by patients with HD. In several HD studies, specific changes in sleep architecture and in circadian melatonin secretion were identified in laboratory testing.Sleep disorders in HD have diverse and complex determinants, the most significant of which includes damage to brain areas that are responsible for the proper sleep pattern and circadian rhythm regulation. Sleep and circadian rhythm disorders...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
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