Spastic Ataxia

A genetically heterogeneous group of hereditary progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with DYSARTHRIA, impaired ocular movements, and gait disturbances. Some cases may also have intellectual disability. OMIM: 108600

Networked: 36 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Friedreich Ataxia (Friedreich's Ataxia)
2.	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
3.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)
4.	Neurodegenerative Diseases (Neurodegenerative Disease)
5.	Optic Atrophy

Experts

1.	Chrzanowska-Lightowlers, Zofia M A: 3 articles (01/2020 - 11/2010)
2.	Bruni, Francesco: 2 articles (01/2020 - 12/2014)
3.	Santorelli, Filippo M: 2 articles (01/2020 - 01/2018)
4.	Taylor, Robert W: 2 articles (01/2020 - 05/2014)
5.	Hermans, Steffen: 2 articles (01/2019 - 11/2017)
6.	Langer, Thomas: 2 articles (01/2019 - 10/2011)
7.	Rugarli, Elena I: 2 articles (01/2019 - 10/2011)
8.	Crosby, Andrew H: 2 articles (12/2014 - 11/2010)
9.	Cross, Harold E: 2 articles (12/2014 - 11/2010)
10.	Lightowlers, Robert N: 2 articles (12/2014 - 11/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spastic Ataxia:

1.	Pyruvic Acid (Pyruvate)IBA 10/01/1980 - "This study extends previous observations of pyruvate metabolism in the spino-cerebellar degenerations by screening for abnormalities of pyruvate oxidation using the rise in blood pyruvate after an oral glucose load and examining the activity of the lipoamide dehydrogenase (LAD) moeity of the pyruvate dehydrogenase complex in the serum of 31 patients with Friedreich's ataxia, hereditary spastic ataxia and primary cerebellar degeneration. "
2.	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 10/01/1980 - "This study extends previous observations of pyruvate metabolism in the spino-cerebellar degenerations by screening for abnormalities of pyruvate oxidation using the rise in blood pyruvate after an oral glucose load and examining the activity of the lipoamide dehydrogenase (LAD) moeity of the pyruvate dehydrogenase complex in the serum of 31 patients with Friedreich's ataxia, hereditary spastic ataxia and primary cerebellar degeneration. "
3.	Lipoproteins (Lipoprotein)IBA 02/01/1978 - "A systematic study of plasma lipids and lipoproteins was carried out in 11 cases of Friedreich's ataxia and 6 cases of familial spastic ataxia (Charlevoix-Saguenay disease) using 11 healthy normolipidemic volunteers of comparable age and sex as controls. " 02/01/1978 - "Plasma lipids and lipoproteins in Friedreich's ataxia and familial spastic ataxia--evidence for an abnormal composition of high density lipoproteins."
4.	Dihydrolipoamide Dehydrogenase (Lipoamide Dehydrogenase)IBA 10/01/1980 - "This study extends previous observations of pyruvate metabolism in the spino-cerebellar degenerations by screening for abnormalities of pyruvate oxidation using the rise in blood pyruvate after an oral glucose load and examining the activity of the lipoamide dehydrogenase (LAD) moeity of the pyruvate dehydrogenase complex in the serum of 31 patients with Friedreich's ataxia, hereditary spastic ataxia and primary cerebellar degeneration. "
5.	LipidsIBA 02/01/1978 - "A systematic study of plasma lipids and lipoproteins was carried out in 11 cases of Friedreich's ataxia and 6 cases of familial spastic ataxia (Charlevoix-Saguenay disease) using 11 healthy normolipidemic volunteers of comparable age and sex as controls. " 02/01/1978 - "Plasma lipids and lipoproteins in Friedreich's ataxia and familial spastic ataxia--evidence for an abnormal composition of high density lipoproteins."
6.	Glucosylceramides (Glucocerebrosides)IBA 02/07/2013 - "This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans."
7.	Glucose (Dextrose)FDA LinkGeneric 10/01/1980 - "This study extends previous observations of pyruvate metabolism in the spino-cerebellar degenerations by screening for abnormalities of pyruvate oxidation using the rise in blood pyruvate after an oral glucose load and examining the activity of the lipoamide dehydrogenase (LAD) moeity of the pyruvate dehydrogenase complex in the serum of 31 patients with Friedreich's ataxia, hereditary spastic ataxia and primary cerebellar degeneration. "
8.	Retinaldehyde (Retinal)IBA 01/13/2004 - "They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. " 01/15/2008 - "Although the cardinal clinical features, i.e., spastic ataxia with peripheral neuropathy, in our patients were similar to those in Quebec patients, our patients exhibited some atypical clinical features, e.g., teenage-onset and absence of retinal hypermyelination. " 03/01/1999 - "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. " 01/01/2012 - "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder with symptoms of spastic ataxia, neuropathy, pyramidal sign, finger and foot deformities, and hypermyelination of retinal nerve fibers. " 01/01/2007 - "This disease is a neurodegenerative disorder characterized by early-onset spastic ataxia, dysarthria, nystagmus, distal muscle wasting, finger and foot deformities, and retinal hypermyelination. "
9.	Proteins (Proteins, Gene)FDA Link 12/12/2022 - "Autosomal Recessive Spastic Ataxia of the Charlevoix Saguenay (ARSACS) is caused by mutation in the SACS gene resulting in loss of function of the protein sacsin. " 02/12/2022 - "Primary fibroblasts obtained from this patient revealed an altered mitochondrial morphology, and a decrease in levels of proteins from complex I, III and IV. Our findings confirmed implication of VPS13D in spastic ataxia and provided further support for mitochondrial defects in patient's skin fibroblasts with VPS13D variants. " 01/01/2019 - "Loss of sacsin, a large 520 kDa multidomain protein, causes autosomal recessive spastic ataxia of the Charlevoix-Saguenay, one of the most common childhood-onset recessive ataxias. " 01/01/2020 - "Mutations in each of the four human VPS13 (VPS13A-D) proteins are associated with distinct neurological disorders: chorea-acanthocytosis, Cohen syndrome, early-onset Parkinson's disease and spastic ataxia. " 01/01/2021 - "Here, we demonstrate that vacuolar protein sorting-associated protein 13D (VPS13D), loss-of-function mutations of which cause spastic ataxia, coordinates FA trafficking in conjunction with the endosomal sorting complex required for transport (ESCRT) protein tumor susceptibility 101 (TSG101). "
10.	m-AAA proteasesIBA 10/01/2011 - "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases." 01/01/2019 - "AFG3L2, which encodes one of the subunits of the m-AAA protease, is mutated in spinocerebellar ataxia SCA28 and in infantile syndromes characterized by spastic-ataxia, epilepsy and premature death. " 06/01/2017 - "Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy. "

Therapies and Procedures

1.	Therapeutics 01/01/2012 - "The initial response to treatment was remarkable but after about 3 weeks of anti-TB therapy, she suddenly deteriorated developing spastic ataxia. "