Diseases Studied

A rare, inherited disease primarily affecting the brain, skin, and immune system. Symptoms usually manifest within the first year of life, including leukodystrophy, or the destruction of myelin (the fatty coating surrounding nerve fibers) in the brain, abnormal calcium deposits in the brain, white blood cells in the cerebrospinal fluid, seizures, fevers, failure to thrive (growth and feeding problems), developmental regression (loss of acquired skills), hypotonia (low muscle tone), spasticity (muscle rigidity), and chilblains (painful, itchy skin lesions).

A rare, inherited disease primarily affecting the brain, skin, and immune system. Symptoms usually manifest within the first year of life, including leukodystrophy, or the destruction of myelin (the fatty coating surrounding nerve fibers) in the brain, abnormal calcium deposits in the brain, white blood cells in the cerebrospinal fluid, seizures, fevers, failure to thrive (growth and feeding problems), developmental regression (loss of acquired skills), hypotonia (low muscle tone), spasticity (muscle rigidity), and chilblains (painful, itchy skin lesions).

A type of leukodystrophy caused by mutations in the LMNB1 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. ADLD typically presents in adulthood with progressive neurological symptoms, including movement difficulties, muscle weakness, and cognitive decline. 

A type of leukodystrophy caused by mutations in the ASPA gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Early symptoms of CD in infancy may include increased head size, weakness, low muscle tone, and loss of head control. Symptoms progress to seizures, blindness, inability to move voluntarily, and difficulty eating solids or swallowing liquids. 

A type of leukodystrophy caused by mutations in the CYP27A1 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. CTX is also characterized by abnormal storage of fats (lipids) in many areas of the body. People with CTX cannot effectively break down certain lipids, including cholesterol. As a result, these fats form fatty yellow nodules called xanthomas that accumulate in the body, especially in the brain and the tendons that attach muscle to bone. Symptoms include diarrhea, clouding of the lens of the eyes (cataracts), tendon problems, progressive neurologic problems, epilepsy, movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), dementia, hallucinations, and depression. Other symptoms may include brittle bones that are prone to fracture (osteoporosis) and an increased risk of developing heart or lung failure. 

A type of leukodystrophy caused by mutations in the CSF1R gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Also known as ALSP or adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, this disorder impacts immune system cells called macrophages and microglia, which normally help protect the brain. This can lead to neuron damage, myelin loss, and reduced microglial activity. 

A rare disease of the nervous system characterized by leukodystrophy, or the destruction of myelin (the fatty coating surrounding nerve fibers). Symptoms include irritability, muscle weakness, seizures, vision loss, fever without cause, developmental delays, and difficulties with feeding, swallowing, and breathing. A hallmark characteristic is the presence of globoid cells (abnormal, large cells with more than one nucleus) in the brain.

A type of leukodystrophy caused by mutations in the DARS2 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. LBSL is characterized by ataxia (impaired balance or coordination), spasticity (muscle stiffness), and dorsal column dysfunction (damage to the spinal cord's dorsal columns). Legs are affected more than the arms. Symptoms usually begin in childhood or adolescence, but in some cases not until adulthood. These symptoms include difficulty speaking, epilepsy, learning problems, cognitive decline, reduced consciousness, neurologic deterioration, and fever following minor head trauma. 

A type of leukodystrophy caused by mutations in the SNORD118 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. LCC is characterized by damage to brain tissue (specifically white matter), calcium build up in brain tissue (cerbral calcifcation), and fluid-filled sacs within brain tissue (cerbral cysts). The cerebral cysts may be small (microcystic) or large (macrocystic). LCC can affect people of any age and progresses over time. Symptoms include problems with the nervous system, such as difficulty thinking and seizures. People with LCC may also experience problems with movement, including difficulty with coordination (pyramidial feature), muscle stiffness (extrapyramidal feature), and difficulty with balance (cerbellum feature).

A type of leukodystrophy caused by mutations in the ARSA gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. In MLD, fatty substances called sulfatides build up in the body, slowing or stopping transmission of messages from the brain to the rest of the body. MLD affects many parts of the body, including the brain, the nerves outside of the brain and spinal cord (peripheral nerves), and the gallbladder.

A type of leukodystrophy caused by mutations in the SUMF1 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. In people with MSD, enzymes called sulfatases build up in the body. This buildup slows or stops transmission of messages from the brain and spinal cord to the rest of the body. Symptoms of MLD can start in babies, juveniles, or adults. These symptoms can include seizures, delayed development, trouble walking, bone and joint changes, trouble eating or swallowing, and constipation. 

A type of leukodystrophy caused by mutations in the PLP1 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. In people with PMD, myelin doesn't form the way it should, slowing or stopping transmission of messages from the brain to the rest of the body. Different types of PMD can cause different signs and symptoms, including unusual eye movements, weak or stiff muscles, trouble breathing, eating, and delayed development. These symptoms usually start in babies or young children. 

A type of leukodystrophy caused by mutations in the GJC2 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Symptoms of PMLD include weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), delayed development of speech and motor skills (such as sitting or grasping objects), and muscle stiffness (spasticity). 

A type of leukodystrophy caused by mutations in the POLR3 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Also known as 4H, this disorder is the combination of hypomyelination (low production of myelin), hypogonadotropic hypogonadism (low production of sex hormones), and hypodontia (low or abnormal development of teeth). People with 4H leukodystrophy often experience motor problems, including muscle and join stiffness as well as problems with balance and coordination. They may also have movement disorders, including tremor or difficulty controlling smooth movements of their arms and legs. As infants, they may have delay in teething or have teeth appear in an unusual order. They are usually small for their age, and they do not go through typical puberty.

A type of leukodystrophy caused by mutations in the TUBB4A gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. TUBB4A-related leukodystrophy causes hypomyelination (low production of myelin) as well as reduced size and function of the basal ganglia and the cerebellum. People with TUBB4A-related leukodystrophy often experience motor problems, including stiffness of the muscles and joints, low muscle tone, difficulty with controlling movements, and problems with balance and coordination. Symptoms and progression differ depending on when the disease first appears, with severe symptoms earlier in life and milder symptoms later in life. 

A type of leukodystrophy caused by mutations in the EIF2B genes. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. VWM causes white matter in the brain to disappear and be replaced by water. This slows down or stops transmission of messages from the brain to the rest of the body, leading to loss of motor control. VWM primarily affects children with symptoms usually progressing slowly over time.​ These symptoms include inability to walk or stand, slow speech, spastic hand movements, incontinence, loss of hearing, loss of vision, seizure, and coma.