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Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
NBIA:50 a heterogeneous group of genetic disorders characterized by brain iron accumulation and neuronal death. Subtypes may be recognized by pattern of iron deposition on T2* and fast spin echo MRI sequences: PKAN: Rare, sometimes familial, condition of progressive rigidity, bradykinesia, dystonia, dysarthria, and dementia in childhood, or occasionally adulthood.Epileptic seizures, chorea, cerebellar ataxia, muscle atrophy, and retinitis pigmentosa may also occur.Iron-containing pigment deposited in the substantia nigra and globus pallidus (‘eye of the tiger sign’) can be imaged by MRI (Figure 16.66).Neuroferritinopathy: more prominent chorea and dystonia; MRI demonstrates more involvement of dentate nuclei, globus pallidus, and putamen, along with confluent areas of hyperintensity.Aceruloplasminemia: occurs with ataxia, dystonia, and chorea, as well as retinal degeneration and diabetes mellitus; MRI demonstrates low intensity in the striatum, thalamus, and dentate nucleus.Infantile neuroaxonal dystrophy.
Peripheral neuropathies
Published in Peter R Wilson, Paul J Watson, Jennifer A Haythornthwaite, Troels S Jensen, Clinical Pain Management, 2008
Ravikiran Shenoy, Katherine Roberts, Praveen Anand
Other useful tests include the following: blood tests – to identify metabolic, nutritional, or toxic states, to measure immunoglobulins and antineural antibodies that relate to immune-mediated neuropathies,13 and to perform genetic screens in the diagnosis of inherited neuropathies;cerebrospinal fluid examination – increased protein levels and cellular responses indicate radicular or meningeal involvement;nerve and muscle biopsy – progress in clinical electrophysiology and molecular genetics has resulted in fewer indications for nerve biopsy in clinical practice.14 Biopsy should be reserved for carefully selected cases.15 The main indications include: – mononeuritis multiplex, in which the etiology is still undetermined after extensive laboratory investigations, and the diagnostic possibilities include vasculitis, amyloidosis, leprosy, and sarcoidosis;– distal, symmetric, polyneuropathies of subacute or chronic evolution when all other diagnostic measures have been exhausted and the condition continues to progress;– in establishing diagnosis in genetically determined pediatric disorders, such as metachromatic leukodystrophy, Krabbe’s disease, giant axonal neuropathy, and infantile neuroaxonal dystrophy.
Emerging clinical investigational drugs for the treatment of amyotrophic lateral sclerosis
Published in Expert Opinion on Investigational Drugs, 2023
Loreto Martinez-Gonzalez, Ana Martinez
(NCT04762589) is a stabilized version of the linoleic acid (11,11 di-deuterated linoleic ethyl ester) that prevents membrane polyunsaturated fatty acids from lipid peroxidation. Neuronal membranes have high content of polyunsaturated fatty acids, which are particularly susceptible to oxidative stress [72]. The replacement of the less-stable linoleic acid by its deuterated homolog RT001 makes neuronal membranes less vulnerable to oxidative damage. Treatment with RT001 has shown early signs of efficacy in patients with Friedreich ataxia, a disorder characterized by intracellular free-iron imbalance that initiates lipid peroxidation, resulting in mitochondrial dysfunction and increased oxidative stress [73] and in children with infantile neuroaxonal dystrophy, a rare disease associated with lipid peroxidation [74]. Moreover, a trend to slow disease progression especially in patients with more severe disease has been obtained in the completed phase II pilot trial [75]. Currently, there is an ongoing Phase II study to assess efficacy of RT001 in 40 subjects with ALS. The primary outcome will be changed in the ALSFRS-R scores between the treated group and the placebo one.
Could low α-N-acetylgalactosaminidase plasma concentration cause schizophrenia?
Published in The World Journal of Biological Psychiatry, 2023
Schindler's disease has different clinical manifestations, affecting neurons and progressing with many symptoms, particularly neurological and psychiatric ones. It is an inherited autosomal-recessive metabolic disease characterised by decreased α-NAGAL activity. It features abnormal urinary excretion of glycopeptides. Clinically quite heterogeneous, Schindler's disease is a severe phenotype, manifesting progressive neurodegenerative disease characterised by Type-I infantile neuroaxonal dystrophy. In Type-I disease, severe neurological symptoms such as psychomotor retardation, seizures, myoclonus, and mental disorders are seen (Schindler et al. 1989). On the other hand, Type-II disease, also called Kanzaki disease (Kanzaki et al. 1991), is late-onset with a milder course, angiokeratoma corporis diffusum, mild mental disorder. Type-III is the intermediate form and has a variable clinical manifestation, which may include psychomotor retardation, seizures, autism-like symptoms, and psychiatric symptoms (Sakuraba et al. 2004).
The Impact of Intrathecal Baclofen Therapy on Health-related Quality of Life for Children with Marked Hypertonia
Published in Developmental Neurorehabilitation, 2020
Kirsty Stewart, Lisa Copeland, Jennifer Lewis
The mean age of patients at pump implant was 11.2 years (range 4.1 years to 16.2 years). Thirty-three patients had a diagnosis of bilateral CP (85%), four had progressive neurological conditions including one Infantile Neuroaxonal Dystrophy and three siblings with a progressive genetic quadriplegic dystonia, one had Hereditary Spastic Paraparesis, one a hypoxic brain injury, and one a spinal condition. The predominant motor type was spasticity for 55% and dystonia for 45%, 37.5% presented with spasticity and dystonia and 30% with dyskinetic CP. Classifications or their equivalents included GMFCS level: III = 1, IV = 18, V = 21; MACS level: I = 1, III = 10, IV = 8, V = 21 and CFCS level: I = 4, II = 5, III = 12, IV = 6 and V = 13. The cohort had multiple comorbidities (mean 2.4, range 0 to 7) including intellectual disability 70%, dysphagia 43%, epilepsy 35%, gastroesophageal reflux 28%, a gastrostomy button 18% and 7.5% with hearing and 7.5% with visual deficits. The cohort as a whole represents the more severely affected and complex children with neurological conditions as is evidenced by their gross motor function, manual ability, and communication function, as well as by the number of comorbidities.