Amyotrophic lateral sclerosis type 10, or ALS10, is a genetic form of ALS caused by changes (mutations) in a gene called TARDBP. This gene makes a protein ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Motor neuron disease (MND) is a group of conditions that slowly damage the motor neurons. Motor neurons are special nerve cells that carry signals from your ...
Lou Gehrig’s disease, also called amyotrophic lateral sclerosis (ALS), is a serious nerve disease that slowly damages the motor neurons—the special nerve cells ...
Alzheimer’s disease type 15 (often shortened to AD15) is a rare, inherited form of dementia. Families with this condition develop gradual problems with memory, ...
Alzheimer disease without neurofibrillary tangles” means a situation where a person shows Alzheimer-type amyloid plaques in the brain, but tau neurofibrillary ...
Late-onset familial Alzheimer’s disease means Alzheimer’s disease that begins at age 65 or later and runs in families. In these families, more than one close ...
Alzheimer’s disease is a progressive brain condition that slowly damages memory, thinking, and daily function. In most people it begins after age 60–65 and ...
Late-onset Alzheimer disease 2 (AD2) is a type of Alzheimer’s disease that usually starts after age 65. It develops slowly. At first, a person may forget ...
AIDS Dementia Complex (ADC) is brain and nerve injury that happens in some people living with HIV, usually when the immune system has been weak for a long ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Chronic lymphocytosis of cerebrospinal fluid (CSF)” means there are too many lymphocytes (a type of white blood cell) in the CSF for a long time. CSF is the ...
Otocephaly is a very rare birth defect that happens very early in pregnancy. The baby’s lower face does not form in the usual way. The lower jaw (mandible) may ...
Holoprosencephaly–agnathia is a very rare birth defect that affects both the brain and the face. In early pregnancy (about weeks 3–4), the front part of the ...
Peripheral neuropathy means the nerves outside the brain and spinal cord do not work properly. These nerves carry signals for feeling (touch, pain, ...
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC)—also known as Andermann syndrome or ACCPN is a rare, inherited nerve ...
“Corpus callosum agenesis–neuronopathy syndrome” describes a condition where a person is born with a missing or very under-developed corpus callosum (the thick ...
Charlevoix disease is a rare, inherited brain and nerve disorder. It begins most often in childhood. The problem starts in the part of the brain that controls ...
Agenesis of the corpus callosum with peripheral neuropathy is a rare, inherited brain-and-nerve condition. “Agenesis of the corpus callosum” means the big band ...
Adult‑onset autosomal dominant demyelinating leukodystrophy, often shortened to ADLD, is a rare brain and spinal cord disease that usually starts in adult life ...
Heredopathia atactica polyneuritiformis is a rare genetic disease in which the body cannot properly break down a dietary fat called phytanic acid. Because of a ...
Hereditary Motor and Sensory Neuropathy type 4 (CMT4) is a group of rare, inherited nerve disorders. It mainly damages the peripheral nerves, which are the ...
