Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

We describe four patients (ages 10–18 years), focusing on their mobility and gait characteristics. Two patients were not able to walk without assistance and showed a severe abnormal gait pattern, crouch gait. At examination, severe contractures were found.In addition to describing the different phenotypes with specific attention to gait in our cases, we reviewed known KIF1A mutations and summarized their associated phenotypes.We conclude that mobility and cognition are severely affected in children with spastic paraplegia due to de novo KIF1A mutations. Deterioration in mobility is most likely due to progressive spasticity, muscle weakness, and the secondary development of severe contractures, possibly combined with an additional progressive polyneuropathy. Close follow-up and treatment of these patients are warranted. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Neuropediatrics - Category: Neurology Authors: Tags: Original Article Source Type: research

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We report three brothers born to consanguineous parents of Syrian descent, with a homozygous novel c.324G>A (p.W108*) mutation in PTRH2 that encodes peptidyl-tRNA hydrolase 2, causing infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We describe the core clinical features of postnatal microcephaly, motor and language delay with regression, ataxia, and hearing loss. Additional features include epileptic seizures, pancreatic insufficiency, and peripheral neuropathy. Clinical phenotyping enabled a targeted approach to the investigation and identification of a novel homozygous nonsense muta...
Source: The Canadian Journal of Neurological Sciences - Category: Neurology Authors: Tags: Can J Neurol Sci Source Type: research
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Source: Frontiers in Neurology - Category: Neurology Source Type: research
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Source: Current Treatment Options in Neurology - Category: Neurology Source Type: research
Abstract PURPOSE OF REVIEW: The aim of this paper was to overview the current literature in order to establish the available treatment options for the neurological manifestations of gluten-related disorders (serologically confirmed gluten sensitivity and coeliac disease). RECENT FINDINGS: A range of debilitating neurological manifestations is increasingly being recognized in patients with gluten sensitivity with and without enteropathy even in the absence of gastrointestinal symptoms. Ataxia is the commonest neurological manifestation, followed by peripheral neuropathy. Epilepsy, headache, encephalopathy, var...
Source: Epilepsy Curr - Category: Neurology Authors: Tags: Curr Treat Options Neurol Source Type: research
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Source: Seizure - Category: Neurology Source Type: research
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Source: Neurology - Category: Neurology Authors: Tags: Neuroscience in the Clinic: Afferent and Efferent Visual Pathway Manifestations of Neurodegenerative Diseases: Implications for Diagnosis and Treatment Source Type: research
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Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research
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Source: Minerva Gastroenterologica e Dietologica - Category: Gastroenterology Tags: Minerva Gastroenterol Dietol Source Type: research
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Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Ataxia Source Type: research
We describe the most common clinical manifestations as cerebellar ataxia, gluten encephalopathy, multiple sclerosis, peripheral neuropathies, sensorineural hearing loss, epilepsy, headache, depression, cognitive deficiencies and other less described clinical conditions. Our aim is to perform, as more as possible, a review about the most recent update on the topics in international literature. It is important to consider clinical neurological manifestations in celiac patients and to research these conditions also in the follow-up because they may start also one year after the start of gluten free diet (GFD) as peripheral ne...
Source: Minerva Gastroenterologica e Dietologica - Category: Gastroenterology Tags: Minerva Gastroenterol Dietol Source Type: research
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