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PubMed This is a summary of 7 peer-reviewed journal articles Updated
Neurology · Cathepsin A-related arteriopathy with strokes and leukoencephalopathy

Symptoms and Medical Emergencies in CARASAL

At a Glance

In CARASAL, gradual changes in speech, swallowing, balance, hearing, thinking, or mood should be tracked, but any sudden neurological change—even one that quickly resolves—may signal a stroke or transient ischemic attack and requires immediate emergency evaluation and brain imaging.

Living with CARASAL means managing a unique combination of chronic, slowly changing symptoms and the potential for sudden medical events. Because CARASAL affects the small blood vessels in the brain, it can lead to both ischemic strokes (caused by a blockage) and hemorrhagic strokes (caused by a bleed) [1].

Distinguishing between the gradual progression of the disease and a new emergency is a critical part of your care.

When to Seek Emergency Care

In CARASAL, any sudden loss or change in neurological function—meaning a change that happens over minutes or hours—must be treated as a medical emergency [2][3]. You cannot tell the difference between a blockage and a bleed based on symptoms alone; emergency hospital imaging (like a CT or MRI) is required to determine what is happening [3]. Transient symptoms that go away quickly could be a TIA (transient ischemic attack) and still require immediate emergency assessment. Do not assume a sudden symptom is just part of your chronic CARASAL progression.

Call emergency services immediately if you experience any of the following “Red Flags”:

  • Sudden Weakness or Numbness: Especially if it occurs on only one side of the body (face, arm, or leg) [2][3].
  • New Facial Droop: A sudden sagging or inability to move one side of your face [2].
  • Abrupt Speech Changes: Suddenly becoming unable to speak, slurring your words significantly more than usual, or being unable to understand others [4][3].
  • Sudden Severe or Unusual Headache: A sudden, unusual, or extremely severe headache can be a sign of a brain or blood-vessel emergency, though bleeds can also occur without severe pain [4].
  • Sudden Vision Loss: A new, abrupt change in vision in one or both eyes.
  • Loss of Consciousness, Seizure, or Extreme Confusion: A rapid change in alertness, mental clarity, memory, or behavior [5].
  • Sudden Severe Imbalance: An abrupt inability to walk or stand when you could do so moments before [3].
  • Abrupt Worsening of Baseline: If your usual speech, swallowing, or gait suddenly gets much worse.

Action Steps for Emergencies:

  1. Call your local emergency number (e.g., 911) immediately. Do not drive yourself.
  2. Note the “last known well” time.
  3. Do not take extra aspirin or blood thinners on your own while waiting for help.
  4. Inform the ER that having CARASAL does not automatically exclude you from standard acute stroke treatments; emergency clinicians must obtain urgent brain and vascular imaging to make an individualized decision.

Chronic and Progressive Symptoms

While the red flags above happen suddenly, many other symptoms of CARASAL develop slowly over years. These progressive changes are a hallmark of the condition’s effect on the brainstem and white matter [6]. While these gradual changes are not medical emergencies, they should be tracked and discussed with your neurology team.

Brainstem-Related Changes

The brainstem is a small but vital area at the base of the brain that controls many automatic functions. In CARASAL, the brainstem often shows significant changes on MRI, leading to:

  • Dysphagia: Difficulty swallowing, which may start with occasional coughing while eating or drinking [6].
  • Dysarthria: A gradual change in the clarity of your speech, often sounding slightly “thick” or slurred [6].
  • Hearing Dysfunction: This can include tinnitus (ringing in the ears) or a gradual loss of hearing (hypoacusis) [6].
  • Disequilibrium: A chronic, ongoing sense of being “unsteady” or off-balance while walking [6][7].

Pain and Sensory Symptoms

  • Migraines: Many patients have a long history of migraine headaches, which may occur with or without an aura (visual or sensory changes before the pain starts) [2].
  • Facial Pain: Some patients experience episodes of intense facial pain, which may be related to the way the disease affects the nerves in the brainstem [2].
  • Vertigo: A chronic or episodic feeling that the room is spinning (non-positional vertigo) [2].

Cognitive and Emotional Changes

You may notice a gradual cognitive deterioration, such as difficulty concentrating or a slower “processing speed” when thinking through tasks [7][2]. Some patients also experience mood changes, such as depression or behavioral disinhibition (difficulty controlling impulses) [2]. When these develop slowly over months or years, they reflect the chronic progression of CARASAL. Again, if any confusion or behavioral shift happens abruptly, seek emergency care.

Common questions in this guide

Which CARASAL symptoms mean I should call emergency services?
Sudden weakness or numbness, facial droop, new speech or vision changes, a severe or unusual headache, seizure, loss of consciousness, extreme confusion, or sudden inability to walk require immediate emergency care. An abrupt worsening of your usual speech, swallowing, or gait also counts. Call your local emergency number rather than driving yourself.
Can CARASAL cause both a blocked-vessel stroke and a brain bleed?
Yes. CARASAL can affect small brain blood vessels in ways that lead to an ischemic stroke from a blockage or a hemorrhagic stroke from bleeding. Symptoms alone cannot reliably distinguish them, so emergency brain imaging such as CT or MRI is needed.
What should I do if my sudden CARASAL symptoms go away?
Symptoms that resolve quickly can still be a transient ischemic attack, or TIA, or another urgent problem. Call emergency services immediately and note when you were last known to be well. Do not drive yourself or take extra aspirin or blood thinners unless an emergency clinician tells you to.
What gradual symptoms can CARASAL cause?
Over months or years, CARASAL may cause difficulty swallowing, less clear speech, hearing changes, tinnitus or ringing in the ears, ongoing imbalance, vertigo, migraines, facial pain, slower thinking, concentration problems, depression, or impulsive behavior. These changes should be tracked and discussed with your neurology team. A sudden change in any of them is an emergency rather than routine progression.
How can my family tell a new stroke symptom from my usual CARASAL problems?
Work with your care team to document your normal speech, swallowing, walking, balance, and thinking. A change that appears over minutes or hours is more concerning for an acute event than a change developing over months or years. Family members who know your baseline can help identify the difference and should call emergency services for sudden worsening.
Does a CARASAL diagnosis rule out standard emergency stroke treatment?
No. CARASAL does not automatically exclude a person from standard acute stroke treatments, but emergency clinicians must first obtain urgent brain and blood-vessel imaging and weigh the individual situation. The emergency team will decide which treatment is safest and appropriate.

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Given my diagnosis, how should we modify standard emergency stroke protocols when I present to the ER?
  2. 2.How can we distinguish between my chronic balance and speech issues and a new, acute event that requires an emergency room visit?
  3. 3.What is my personalized plan if I experience transient symptoms that resolve quickly?
  4. 4.Can you help me set a baseline for my 'normal' speech, swallowing, and balance so that my family knows when a change is significant?
  5. 5.What specialists (such as a speech therapist for swallowing) should I see to manage my progressive symptoms?

References

References (7)
  1. 1

    Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL.

    Cerfontaine MN, Gravesteijn G, Hack RJ, et al.

    Neurology. Genetics 2026; (12(2)):e200358 doi:10.1212/NXG.0000000000200358.

    PMID: 41908989
  2. 2

    Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

    Finsterer J, Scorza CA, Scorza FA, Wakil SM

    Acta neurologica Belgica 2019; (119(3)):299-303 doi:10.1007/s13760-019-01158-8.

    PMID: 31177426
  3. 3

    Stroke.

    Hilkens NA, Casolla B, Leung TW, de Leeuw FE

    Lancet (London, England) 2024; (403(10446)):2820-2836 doi:10.1016/S0140-6736(24)00642-1.

    PMID: 38759664
  4. 4

    Clinical Reasoning: A 50-Year-Old Man With Intracerebral Hemorrhage and Tortuous Retinal Arterioles.

    Bouchart J, Weber S, Coste T, et al.

    Neurology 2024; (103(6)):e209796 doi:10.1212/WNL.0000000000209796.

    PMID: 39167747
  5. 5

    Fatal Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Case Report.

    Chiang CC, Christiansen ME, O'Carroll CB

    The neurologist 2019; (24(4)):136-138 doi:10.1097/NRL.0000000000000231.

    PMID: 31246723
  6. 6

    A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

    Budhdeo S, de Paiva ARB, Wade C, et al.

    Journal of neurology 2022; (269(12)):6673-6677 doi:10.1007/s00415-022-11302-9.

    PMID: 35904593
  7. 7

    Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

    Bugiani M, Kevelam SH, Bakels HS, et al.

    Neurology 2016; (87(17)):1777-1786 doi:10.1212/WNL.0000000000003251.

    PMID: 27664989

This page is for informational purposes only and does not constitute medical advice. Call emergency services for sudden neurological changes, and discuss chronic symptoms and your personal emergency plan with your neurology team.