recessive Spastic paraplegia type 5A

Also Known As:

Spastic paraplegia type 5A, recessive; Autosomal recessive spastic paraplegia

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Hereditary Sensory and Motor Neuropathy: 249
      - Hereditary Spastic Paraplegia: 528
        recessive Spastic paraplegia type 5A: 9
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Hereditary Spastic Paraplegia: 528
        recessive Spastic paraplegia type 5A: 9

Related Diseases

1.	Parkinsonian Disorders (Parkinsonism)
2.	Parkinson Disease (Parkinson's Disease)
3.	Paraplegia (Spastic Paraplegia)
4.	Hepatolenticular Degeneration (Wilson's Disease)
5.	Dystonia (Limb Dystonia)

Experts

1.	Labauge, Pierre: 2 articles (01/2018 - 03/2015)
2.	Marelli, Cecilia: 2 articles (01/2018 - 03/2015)
3.	Bellad, Anikha: 1 article (12/2021)
4.	Girimaji, Satish Chandra: 1 article (12/2021)
5.	Muthusamy, Babylakshmi: 1 article (12/2021)
6.	Alhaddad, Bader: 1 article (01/2020)
7.	Baldacci, Jacopo: 1 article (01/2020)
8.	Bassi, Maria Teresa: 1 article (01/2020)
9.	Battini, Roberta: 1 article (01/2020)
10.	Bertocci, Giulia: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to recessive Spastic paraplegia type 5A:

1.	Adaptor Protein Complex 4IBA 12/01/2023 - "Biallelic mutations in AP4S1, the σ4 subunit of the adaptor protein complex 4 (AP-4), lead to autosomal recessive spastic paraplegia 52 (SPG52). " 12/01/2021 - "A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50." 01/01/2020 - "Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP-4). "
2.	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 11/01/2010 - "We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. "
3.	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 08/01/2023 - "AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model."
4.	Myelin-Associated GlycoproteinIBA 01/01/2020 - "The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia type 75. "
5.	PolyaminesIBA 01/01/2023 - "ATP13A2, which is mutated in juvenile-onset Parkinson's disease and autosomal recessive spastic paraplegia 78, is a transporter with a critical role in balancing the polyamine concentration between the lysosome and the cytosol. "
6.	IronIBA 03/01/2015 - "Mutations in the fatty-acid 2-hydroxylase (FA2H) gene cause an autosomal recessive spastic paraplegia (SPG35), often associating with cerebellar ataxia; cerebral MRI may show iron accumulation in the basal ganglia, leading to the inclusion of SPG35 among the causes of neurodegeneration with brain iron accumulation. "
7.	Fatty Acids (Saturated Fatty Acids)IBA 03/01/2015 - "Mutations in the fatty-acid 2-hydroxylase (FA2H) gene cause an autosomal recessive spastic paraplegia (SPG35), often associating with cerebellar ataxia; cerebral MRI may show iron accumulation in the basal ganglia, leading to the inclusion of SPG35 among the causes of neurodegeneration with brain iron accumulation. "
8.	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 01/01/2018 - "Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. "
9.	CholesterolIBA 01/01/2018 - "Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. "
10.	Bile Acids and Salts (Bile Acids)IBA 01/01/2018 - "Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. "