Hereditary spastic paraplegia 26
MONDO:0012213A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
Also known as: GM2 synthase deficiency, SPG26, autosomal recessive spastic paraplegia type 26, hereditary spastic paraplegia type 26, spastic paraplegia 26, spastic paraplegia 26, autosomal recessive
15 clinical trials for this condition and its sub-types.
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3D-Printed fork handles could help dementia patients eat on their own
Symptom relief Recruiting nowThis study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…
Phase: NA • Sponsor: Centre Hospitalier Intercommunal de Toulon La Seyne sur Mer • Aim: Symptom relief
Last updated Jun 27, 2026 14:00 UTC
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Brain scans and tests aim to unlock secrets of cognitive deficits after injury
Knowledge-focused Recruiting nowThis study looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…
Phase: NA • Sponsor: University Hospital, Caen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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Scientists hunt for genetic clues to rare paralysis disorder
Knowledge-focused Recruiting nowThis study aims to uncover the genetic causes of hereditary spastic paraplegia (HSP), a group of rare neurological diseases that cause progressive muscle stiffness and weakness. Researchers at Boston Children's Hospital will analyze DNA from 200 people with HSP to find genetic va…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC
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NIH launches data repository to fuel future research on rare nerve and muscle diseases
Knowledge-focused Recruiting nowThis study gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Scientists build a 'Cognitive Atlas' for mental and neurological illnesses
Knowledge-focused Recruiting nowThis study is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…
Phase: NA • Sponsor: Centre Hospitalier St Anne • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Thick liquids might help people with swallowing problems take pills safely
Knowledge-focused Recruiting nowThis study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…
Sponsor: Heinrich-Heine University, Duesseldorf • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC